Research & Literature
Explore the leading researchers and institutions driving advances in this area, and dive into the full body of literature that informs this resource.
Top Authors
Top Institutions
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National Institutes of Health
Bethesda, United States
Université Claude Bernard Lyon 1
Villeurbanne, France
Leiden University Medical Center
Leiden, The Netherlands
Ospedale Regina Margherita
Turin, Italy
Inserm
Paris, France
Nuffield Orthopaedic Centre
Oxford, United Kingdom
Chinese Academy of Medical Sciences & Peking Union Medical College
Beijing, China
Boston Children's Hospital
Boston, United States
Sapienza University of Rome
Rome, Italy
Johns Hopkins University
Baltimore, United States
References
References (94)
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Odontoiatric perspectives and osteonecrosis of the jaw as a possible adverse effect of bisphosphonates therapy in fibrous dysplasia and McCune-Albright syndrome.
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[McCune-Albright syndrome revealed by Blaschko-linear café-au-lait spots on the back].
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Optical Coherence Tomography in the Management of Skull Base Fibrous Dysplasia with Optic Nerve Involvement.
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World neurosurgery 2018; (109()):e546-e553 doi:10.1016/j.wneu.2017.10.018.
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Association of Hearing Loss and Otologic Outcomes With Fibrous Dysplasia.
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JAMA otolaryngology-- head & neck surgery 2018; (144(2)):102-107 doi:10.1001/jamaoto.2017.2407.
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Polyostotic Fibrous Dysplasia With and Without McCune-Albright Syndrome-Clinical Features in a Nordic Pediatric Cohort.
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Frontiers in endocrinology 2018; (9()):96 doi:10.3389/fendo.2018.00096.
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Scoliosis in Fibrous Dysplasia/McCune-Albright Syndrome: Factors Associated With Curve Progression and Effects of Bisphosphonates.
Berglund JA, Tella SH, Tuthill KF, et al.
Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research 2018; (33(9)):1641-1648 doi:10.1002/jbmr.3446.
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Growth hormone-Insulin-like growth factor 1 axis hyperactivity on bone fibrous dysplasia in McCune-Albright Syndrome.
Tessaris D, Boyce AM, Zacharin M, et al.
Clinical endocrinology 2018; (89(1)):56-64 doi:10.1111/cen.13722.
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Individualized approach to the surgical management of fibrous dysplasia of the proximal femur.
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Orphanet journal of rare diseases 2018; (13(1)):72 doi:10.1186/s13023-018-0805-7.
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Head and neck manifestations of an undiagnosed McCune-Albright syndrome: clinicopathological description and literature review.
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EFFICACY AND SAFETY OF BISPHOSPHONATE THERAPY IN MCCUNE-ALBRIGHT SYNDROME-RELATED POLYOSTOTIC FIBROUS DYSPLASIA: A SINGLE-CENTER EXPERIENCE.
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Endocrine practice : official journal of the American College of Endocrinology and the American Association of Clinical Endocrinologists 2019; (25(1)):23-30 doi:10.4158/EP-2018-0328.
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Management of precocious puberty in girls with McCune-Albright syndrome using letrozole.
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Endocrine connections 2018; (7(12)):1424-1431.
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Fibrous dysplasia for radiologists: beyond ground glass bone matrix.
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Age-Related Changes and Effects of Bisphosphonates on Bone Turnover and Disease Progression in Fibrous Dysplasia of Bone.
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Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research 2019; (34(4)):653-660 doi:10.1002/jbmr.3649.
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Gynecologic and reproductive outcomes in fibrous dysplasia/McCune-Albright syndrome.
Boyce AM, Casey RK, Ovejero Crespo D, et al.
Orphanet journal of rare diseases 2019; (14(1)):90 doi:10.1186/s13023-019-1057-x.
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Best practice management guidelines for fibrous dysplasia/McCune-Albright syndrome: a consensus statement from the FD/MAS international consortium.
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Orphanet journal of rare diseases 2019; (14(1)):139 doi:10.1186/s13023-019-1102-9.
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Neonatal McCune-Albright Syndrome: A Unique Syndromic Profile With an Unfavorable Outcome.
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JBMR plus 2019; (3(8)):e10134 doi:10.1002/jbm4.10134.
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FGF23 and Associated Disorders of Phosphate Wasting.
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Pediatric endocrinology reviews : PER 2019; (17(1)):17-34 doi:10.17458/per.vol17.2019.gi.fgf23anddisordersphosphate.
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Improved Molecular Diagnosis of McCune-Albright Syndrome and Bone Fibrous Dysplasia by Digital PCR.
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Frontiers in genetics 2019; (10()):862 doi:10.3389/fgene.2019.00862.
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Fibrous Dysplasia/McCune-Albright Syndrome: A Rare, Mosaic Disease of Gα s Activation.
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Endocrine reviews 2020; (41(2)) doi:10.1210/endrev/bnz011.
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Patients With Isolated Craniofacial Dysplasia Report Better Quality of Life Compared With Those With Craniofacial Dysplasia and Extracranial Involvement.
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Ophthalmic plastic and reconstructive surgery 2020; (36(3)):292-297 doi:10.1097/IOP.0000000000001536.
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The Clinical Spectrum of McCune-Albright Syndrome and Its Management.
Spencer T, Pan KS, Collins MT, Boyce AM
Hormone research in paediatrics 2019; (92(6)):347-356 doi:10.1159/000504802.
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McCune-Albright syndrome and type 1 diabetes mellitus: a novel presentation.
Chatty P, Khattab A, Marshall I
Annals of the New York Academy of Sciences 2020; (1463(1)):5-8 doi:10.1111/nyas.14310.
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GNAS mutated thyroid carcinoma in a patient with Mc Cune Albright syndrome.
Legrand MA, Raverot G, Nicolino M, Chapurlat R
Bone reports 2020; (13()):100299 doi:10.1016/j.bonr.2020.100299.
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[Efficacy and safety of letrozole in treatment of McCune-Albright syndrome girls with peripheral precocious puberty].
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Zhejiang da xue xue bao. Yi xue ban = Journal of Zhejiang University. Medical sciences 2020; (49(3)):291-296 doi:10.3785/j.issn.1008-9292.2020.05.02.
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Auxological and Endocrinological Features in Children With McCune Albright Syndrome: A Review.
Tufano M, Ciofi D, Amendolea A, Stagi S
Frontiers in endocrinology 2020; (11()):522 doi:10.3389/fendo.2020.00522.
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Optic disc edema in fibrous dysplasia/McCune-Albright syndrome: Prevalence, etiologies, and clinical implications.
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Bone 2021; (143()):115661 doi:10.1016/j.bone.2020.115661.
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Bisphosphonates for the treatment of fibrous dysplasia of bone.
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Bone 2021; (143()):115784 doi:10.1016/j.bone.2020.115784.
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Stigma and psychological distress among pediatric participants in the FD/MAS Alliance Patient Registry.
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BMC pediatrics 2021; (21(1)):173 doi:10.1186/s12887-021-02647-7.
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McCune-Albright syndrome onset with vaginal bleeding.
Van Doan N, Minh Duc N, Kim Ngan V, Van Anh N
BMJ case reports 2021; (14(7)) doi:10.1136/bcr-2021-243401.
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[Preliminary results of surgical treatment of fibrous dysplasia of proximal femur in children].
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McCune-Albright syndrome, a rare form of precocious puberty: Diagnosis, treatment, and follow-up.
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Fibrous dysplasia patients with and without craniofacial involvement report reduced quality of life inclusive of stigma, depression, and anxiety.
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Chronic illness 2022; (18(4)):927-936 doi:10.1177/17423953211049436.
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McCune-Albright syndrome - A case report with transmission electron microscopy.
Garcia Neto V, de Almeida HL, Lorea CF, et al.
Anais brasileiros de dermatologia 2022; (97(1)):58-62 doi:10.1016/j.abd.2021.09.002.
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Extent of Extraskeletal Manifestations of Fibrous Dysplasia/McCune-Albright Syndrome in Patients with Mazabraud's Syndrome.
Hagelstein-Rotman M, Appelman-Dijkstra NM, Boyce AM, et al.
Calcified tissue international 2022; (110(3)):334-340 doi:10.1007/s00223-021-00918-0.
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Delayed Diagnosis of McCune-Albright Syndrome.
Fantahun B, Desta S
Case reports in genetics 2021; (2021()):2999349 doi:10.1155/2021/2999349.
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Postoperative thyroid crisis in an 11-year old male with McCune-Albright syndrome and atypical triiodothyronine hyperthyroidism: A case report.
Hu J, Hu C
Medicine 2022; (101(9)):e28928 doi:10.1097/MD.0000000000028928.
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Rickets guidance: part II-management.
Haffner D, Leifheit-Nestler M, Grund A, Schnabel D
Pediatric nephrology (Berlin, Germany) 2022; (37(10)):2289-2302 doi:10.1007/s00467-022-05505-5.
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Management Strategies of Fibrous Dysplasia Involving the Paranasal Sinus and the Adjacent Skull Base.
Shi LL, Xiong P, Zhen HT
Ear, nose, & throat journal 2025; (104(2)):85-92 doi:10.1177/01455613221088728.
PMID: 35418265 - 50
Craniofacial fibrous dysplasia and aneurismal bone cyst in a patient with McCune-Albright syndrome. A case report and review of the literature.
Castro Castro J, Villa Fernández JM, Agulleiro Díaz JP
Neurocirugia 2023; (34(5)):268-272 doi:10.1016/j.neucie.2022.09.002.
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Phosphatonins: From Discovery to Therapeutics.
Kritmetapak K, Kumar R
Endocrine practice : official journal of the American College of Endocrinology and the American Association of Clinical Endocrinologists 2023; (29(1)):69-79 doi:10.1016/j.eprac.2022.09.007.
PMID: 36210014 - 52
Otalgia revealing McCune-Albright syndrome: A case report.
Sbai AA, Es-Salhi F, Tsen AA, Fahd Elayoubi
Annals of medicine and surgery (2012) 2022; (82()):104706 doi:10.1016/j.amsu.2022.104706.
PMID: 36268423 - 53
Hyperthyroidism in McCune-Albright Syndrome - a case report.
Rosinha P, Ramalho D, Rodrigues O, et al.
Journal of pediatric endocrinology & metabolism : JPEM 2023; (36(3)):319-322 doi:10.1515/jpem-2022-0357.
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A multidisciplinary care pathway improves quality of life and reduces pain in patients with fibrous dysplasia/McCune-Albright syndrome: a multicenter prospective observational study.
Meier ME, Hagelstein-Rotman M, van de Ven AC, et al.
Orphanet journal of rare diseases 2022; (17(1)):439 doi:10.1186/s13023-022-02588-z.
PMID: 36528764 - 55
Case report: Surgical treatment of McCune-Albright syndrome with hyperthyroidism and retrosternal goiter: A case report and literature review.
Xing Z, Tao G, Pan W, et al.
Frontiers in surgery 2022; (9()):921427 doi:10.3389/fsurg.2022.921427.
PMID: 36684307 - 56
Frequency of spontaneous osteosarcomatous transformation of craniofacial fibrous dysplasia: a systematic review.
Furmah P, Aminoshariae A, Mupparapu M, Syed AZ
Oral surgery, oral medicine, oral pathology and oral radiology 2023; (135(5)):678-685 doi:10.1016/j.oooo.2022.12.007.
PMID: 36828758 - 57
Autonomous growth hormone secretion due to McCune Albright syndrome in paediatric age group: an ominous triad.
Jayant SS, Walia R, Gupta R, et al.
Endocrine 2023; (81(1)):149-159 doi:10.1007/s12020-023-03333-7.
PMID: 36877453 - 58
McCune-Albright Syndrome: A Case Report and Review of Literature.
Nicolaides NC, Kontou M, Vasilakis IA, et al.
International journal of molecular sciences 2023; (24(10)) doi:10.3390/ijms24108464.
PMID: 37239810 - 59
Clinical course of peripheral precocious puberty in girls due to autonomous ovarian cysts.
Heo S, Shim YS, Lee HS, Hwang JS
Clinical endocrinology 2024; (100(1)):29-35 doi:10.1111/cen.14943.
PMID: 37386805 - 60
Lower-limb intramedullary nailing in patients with polyostotic fibrous dysplasia who had a previous unsuccessful treatment. A report of 48 cases.
Ippolito E, Farsetti P, Caterini R, et al.
Journal of orthopaedics and traumatology : official journal of the Italian Society of Orthopaedics and Traumatology 2023; (24(1)):35 doi:10.1186/s10195-023-00705-7.
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Craniofacial fibrous dysplasia: Systematic review of facial management.
Bouet B, Schlund M, De Massary M, Nicot R
Journal of stomatology, oral and maxillofacial surgery 2023; (124(6 Suppl 2)):101660 doi:10.1016/j.jormas.2023.101660.
PMID: 37866506 - 62
Management of RANKL-mediated Disorders With Denosumab in Children and Adolescents: A Global Expert Guidance Document.
Vanderniet JA, Szymczuk V, Högler W, et al.
The Journal of clinical endocrinology and metabolism 2024; (109(5)):1371-1382 doi:10.1210/clinem/dgad657.
PMID: 38041865 - 63
Pasireotide: potential treatment option for McCune-Albright-associated acromegaly.
Ilie MD, Raverot G, Brac de la Perrière A
European journal of endocrinology 2024; (190(1)):K17-K20 doi:10.1093/ejendo/lvad173.
PMID: 38128124 - 64
Choosing the Best Tissue and Technique to Detect Mosaicism in Fibrous Dysplasia/McCune-Albright Syndrome (FD/MAS).
Vado Y, Manero-Azua A, Pereda A, Perez de Nanclares G
Genes 2024; (15(1)) doi:10.3390/genes15010120.
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Diagnostic journey for individuals with fibrous dysplasia / McCune albright syndrome (FD/MAS).
Song K, Shrestha R, Delaney H, et al.
Orphanet journal of rare diseases 2024; (19(1)):50 doi:10.1186/s13023-024-03036-w.
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[Fibrous dysplasia].
Waltermann A, Westhoff B
Orthopadie (Heidelberg, Germany) 2024; (53(10)):805-816 doi:10.1007/s00132-024-04548-w.
PMID: 39235640 - 67
A Qualitative Approach to Quality of Life in Fibrous Bone Dysplasia /McCune Albright Syndrome: Looking Beyond Quantitative Analysis.
Jousse J, Merle B, Feurer E, et al.
Calcified tissue international 2025; (116(1)):18 doi:10.1007/s00223-024-01332-y.
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A narrative review of the literature on the pediatric orthopedic management of fibrous dysplasia.
Paris E, De Marco G, Vazquez O, et al.
Frontiers in pediatrics 2024; (12()):1502262 doi:10.3389/fped.2024.1502262.
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Clinical spectrum and uncommon features of McCune-Albright syndrome in children: a cohort study from a National Referral Center.
Bergignat S, Chapurlat R, Nicolino M, Perge K
Frontiers in endocrinology 2025; (16()):1531765 doi:10.3389/fendo.2025.1531765.
PMID: 40078582 - 70
Burosumab treatment of a child with McCune-Albright syndrome/polyostotic fibrous dysplasia: challenges and benefits.
Sakka SD, Georgakopoulou D, Doulgeraki A, et al.
JBMR plus 2025; (9(5)):ziaf042 doi:10.1093/jbmrpl/ziaf042.
PMID: 40297189 - 71
Developing a Standardised Dataset for Natural History Studies in Fibrous Dysplasia/McCune-Albright Syndrome.
Priego Zurita AL, Bulaicon OO, Bryce J, et al.
Calcified tissue international 2025; (116(1)):68 doi:10.1007/s00223-025-01379-5.
PMID: 40316789 - 72
Peripheral precocious puberty in girls with McCune-Albright syndrome: a case series.
Faria AG, Montenegro LR, Jorge AAL, et al.
Archives of endocrinology and metabolism 2025; (69(2)):e240459 doi:10.20945/2359-4292-2024-0459.
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Surgical treatment of monostotic fibrous dysplasia of the proximal femur in children and adolescents: Observational European Paediatric Orthopaedic Society multicenter study.
van Geloven TP, de Witte PB, Laitinen MK, et al.
Journal of children's orthopaedics 2025; 18632521251355884 doi:10.1177/18632521251355884.
PMID: 40726900 - 74
Fibrous dysplasia/McCune-Albright syndrome: state-of-the-art advances, pathogenesis, and basic/translational research.
Palmisano B, Berry C, Boyce A, et al.
Orphanet journal of rare diseases 2025; (20(1)):414 doi:10.1186/s13023-025-03909-8.
PMID: 40781626 - 75
Early Manifestation of McCune-Albright Syndrome in a 32-Month-Old Female: A Rare Case Report.
Makhlouf TZ, Mahareeq MS, Abumazen A, et al.
Journal of investigative medicine high impact case reports 2025; (13()):23247096251367692 doi:10.1177/23247096251367692.
PMID: 40842264 - 76
[Malignancy of fibrous dysplasia of the calvarial bone in patient with McCune-Albright syndrome: clinical observation and literature review].
Rakityanskiy MM, Vinogradov EV, Pronin IN, et al.
Zhurnal voprosy neirokhirurgii imeni N. N. Burdenko 2025; (89(4)):87-97 doi:10.17116/neiro20258904187.
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Bisphosphonate therapy in pediatric fibrous dysplasia: A systematic review of clinical, biochemical, and radiological outcomes.
Regmi A, Niraula BB
Journal of clinical orthopaedics and trauma 2025; (70()):103182 doi:10.1016/j.jcot.2025.103182.
PMID: 40934056 - 78
Long-Term Follow-Up of a Patient with McCune-Albright Syndrome: A Case Report.
Shoji Y, Kusaka S, Kawashima K, et al.
Journal of clinical medicine 2025; (14(17)) doi:10.3390/jcm14176101.
PMID: 40943859 - 79
Childhood fibrous dysplasia.
Pfirrmann C, Journeau P, Chotel F, Chapurlat R
Orthopaedics & traumatology, surgery & research : OTSR 2026; (112(1S)):104440 doi:10.1016/j.otsr.2025.104440.
PMID: 40998114 - 80
The Natural Course of Pain in Fibrous Dysplasia/McCune Albright Syndrome: A Prospective Follow Up Study.
Bulaicon OO, Hagelstein-Rotman M, Meier ME, et al.
Calcified tissue international 2025; (116(1)):140 doi:10.1007/s00223-025-01452-z.
PMID: 41326696 - 81
Osteosarcomatous Transformation of Long-Standing Fibrous Dysplasia of the Maxilla.
Schwind WN, Brereton CB, Carrau RL, Cho RI
Ophthalmic plastic and reconstructive surgery 2026; (42(5)):e219-e223 doi:10.1097/IOP.0000000000003163.
PMID: 41418276 - 82
A phase 2 trial of burosumab for treatment of fibroblast growth factor-23 mediated hypophosphatemia in children and adults with fibrous dysplasia.
de Jong O, Gun ZH, Asante-Otoo A, et al.
medRxiv : the preprint server for health sciences 2025; doi:10.1101/2025.09.26.25334161.
PMID: 41480037 - 83
McCune-Albright Syndrome: A Case Series.
Agarwal V, Das S, Chappalagavi AS, et al.
Cureus 2026; (18(1)):e101120 doi:10.7759/cureus.101120.
PMID: 41669573 - 84
Denosumab in pediatric patients with fibrous dysplasia/McCune-Albright syndrome: a single-center, open-labeled study.
Ouyang Q, Jiajue R, Zhou R, et al.
Frontiers in endocrinology 2026; (17()):1762370 doi:10.3389/fendo.2026.1762370.
PMID: 41788765 - 85
Efficacy of Denosumab for Treatment of Pain in Fibrous Dysplasia and McCune-Albright Syndrome: A Systematic Review.
Yau V, Best DL
Clinical endocrinology 2026; (105(2)):141-150 doi:10.1111/cen.70133.
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Genotype-phenotype correlation and challenges in mutation detection in McCune-Albright syndrome: A retrospective study of a French cohort.
Giannetti C, Aouchiche K, Lagarde A, et al.
Annales d'endocrinologie 2026; (87(2)):102514 doi:10.1016/j.ando.2026.102514.
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Fibrous dysplasia: Clinical features, deformities, management, and outcomes.
Karaca MO, Özyıldıran M, Kalem M, et al.
Joint diseases and related surgery 2026; (37(2)):531-542.
PMID: 41906848 - 88
Multidisciplinary approach and clinical management of McCune-Albright syndrome.
Wang J, Sang Y
Frontiers in endocrinology 2026; (17()):1786683 doi:10.3389/fendo.2026.1786683.
PMID: 42006260 - 89
Burosumab use in fibroblast growth factor-23-mediated hypophosphatemia in McCune-Albright syndrome/fibrous dysplasia.
Alsayed Hasan M, Al Mukaddam M
JCEM case reports 2026; (4(6)):luag086 doi:10.1210/jcemcr/luag086.
PMID: 42100588 - 90
Genotype-phenotype correlation and challenges in mutation detection in McCune-Albright syndrome: A retrospective study of a French cohort.
Giannetti C, Aouchiche K, Lagarde A, et al.
Annales d'endocrinologie 2026; (87(3)):102556 doi:10.1016/j.ando.2026.102556.
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