Research & Literature

A familial case of Coffin-Lowry syndrome caused by RPS6KA3 C.898C>T mutation associated with multiple abnormal brain imaging findings.

Tos T, Alp MY, Aksoy A, et al.

Genetic counseling (Geneva, Switzerland) 2015; (26(1)):47-52.

Recurrent Nonconvulsive Status Epilepticus in a Patient with Coffin-Lowry Syndrome.

Gschwind M, Foletti G, Baumer A, et al.

Molecular syndromology 2015; (6(2)):91-5 doi:10.1159/000430429.

625 kb microduplication at Xp22.12 including RPS6KA3 in a child with mild intellectual disability.

Bertini V, Cambi F, Bruno R, et al.

Journal of human genetics 2015; (60(12)):777-80 doi:10.1038/jhg.2015.106.

Loss of the Coffin-Lowry syndrome-associated gene RSK2 alters ERK activity, synaptic function and axonal transport in Drosophila motoneurons.

Beck K, Ehmann N, Andlauer TF, et al.

Disease models & mechanisms 2015; (8(11)):1389-400 doi:10.1242/dmm.021246.

Drop episodes improved after tracheotomy: a case of Coffin-Lowry syndrome associated with obstructive sleep apnea syndrome.

Imataka G, Nakajima I, Goto K, et al.

European review for medical and pharmacological sciences 2016; (20(3)):498-501.

Rsk2, the Kinase Mutated in Coffin-Lowry Syndrome, Controls Cementum Formation.

Koehne T, Jeschke A, Petermann F, et al.

Journal of dental research 2016; (95(7)):752-60 doi:10.1177/0022034516634329.

Foramen magnum compression in Coffin-Lowry syndrome: A case report.

Upadia J, Oakes J, Hamm A, et al.

American journal of medical genetics. Part A 2017; (173(4)):1087-1089 doi:10.1002/ajmg.a.38095.

Perioperative management of a patient with Coffin-Lowry syndrome complicated by severe obesity: A case report and literature review.

Hirakawa M, Nishihara T, Nakanishi K, et al.

Medicine 2017; (96(49)):e9026 doi:10.1097/MD.0000000000009026.

The natural history of spinal deformity in patients with Coffin-Lowry syndrome.

Welborn M, Farrell S, Knott P, et al.

Journal of children's orthopaedics 2018; (12(1)):70-75 doi:10.1302/1863-2548.12.170101.

Autism spectrum disorder in females with ARHGEF9 alterations and a random pattern of X chromosome inactivation.

Aarabi M, Kessler E, Madan-Khetarpal S, et al.

European journal of medical genetics 2019; (62(4)):239-242 doi:10.1016/j.ejmg.2018.07.021.

Efficacy of rufinamide in childhood refractory epilepsy.

Yıldız EP, Hızlı Z, Bektaş G, et al.

The Turkish journal of pediatrics 2018; (60(3)):238-243.

Severe Restrictive Lung Disease in One of the Oldest Documented Males With Coffin-Lowry Syndrome.

Venter F, Evans A, Fontes C, Stewart C

Journal of investigative medicine high impact case reports 2019; (7()):2324709618820660 doi:10.1177/2324709618820660.

Coffin-Lowry syndrome in Chinese.

Fung JLF, Rethanavelu K, Luk HM, et al.

American journal of medical genetics. Part A 2019; (179(10)):2043-2048 doi:10.1002/ajmg.a.61323.

[Analysis of RPS6KA3 gene mutation in a Chinese pedigree affected with Coffin-Lowry syndrome].

Shen N, Liu Y, Zhang K, et al.

Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics 2019; (36(8)):798-800 doi:10.3760/cma.j.issn.1003-9406.2019.08.011.

Genome-wide association analysis for lethal brachycephalic-like facial dysmorphia in Labrador Retrievers.

Vasiliadis D, Dierks C, Hoffmann H, et al.

Animal genetics 2020; (51(1)):122-126 doi:10.1111/age.12875.

Quantitative description of the interactions among kinase cascades underlying long-term plasticity of Aplysia sensory neurons.

Zhang Y, Smolen PD, Cleary LJ, Byrne JH

Scientific reports 2021; (11(1)):14931 doi:10.1038/s41598-021-94393-0.

First female Korean child with Coffin-Lowry syndrome: a novel variant in RPS6KA3 diagnosed by exome sequencing and a literature review.

Song A, Im M, Kim MS, et al.

Annals of pediatric endocrinology & metabolism 2023; (28(1)):67-72 doi:10.6065/apem.2142134.067.

Short Bones, Renal Stones, and Diagnostic Moans: Hypercalcemia in a Girl Found to Have Coffin-Lowry Syndrome.

Tise CG, Matalon DR, Manning MA, et al.

Journal of investigative medicine high impact case reports 2022; (10()):23247096221101844 doi:10.1177/23247096221101844.

Mitral valve repair and tricuspid annuloplasty for Coffin-Lowry syndrome.

Wakami T, Yoshizawa K, Maeda T, et al.

Asian cardiovascular & thoracic annals 2022; (30(9)):1017-1019 doi:10.1177/02184923221123879.

Home care worker-supported exercise program to address falls: a feasibility study.

Walsh W, Meyer C, Cyarto EV

Australian journal of primary health 2023; (29(6)):650-660 doi:10.1071/PY22248.

Airway management of a patient with coffin-lowry syndrome: a case report.

Ghose S, Nisar F, Aleem BA

BMC anesthesiology 2024; (24(1)):291 doi:10.1186/s12871-024-02667-7.

Targeting RSK2 in Cancer Therapy: A Review of Natural Products.

Wu T, Chen Z, Liu X, et al.

Anti-cancer agents in medicinal chemistry 2025; (25(1)):35-41 doi:10.2174/0118715206329546240830055233.

Management of drop attacks in Ménière's disease: a systematic literature review.

Selwyn A, Mckay-Davies I

The Journal of laryngology and otology 2025; (139(6)):434-440 doi:10.1017/S0022215124001439.

Cardiovascular Collapse During Scoliosis Surgery in a Patient With Coffin-Lowry Syndrome and Mesocardia.

Ali T, Albarni A, Guez M, Åkerstedt J

Cureus 2025; (17(10)):e94769 doi:10.7759/cureus.94769.

[Case Report of One Family With Coffin-Lowry Syndrome and Literature Review of 28 Cases in China].

Zhu D, Yang W, Zhang L

Sichuan da xue xue bao. Yi xue ban = Journal of Sichuan University. Medical science edition 2025; (56(6)):1542-1546 doi:10.12182/20251160204.

Coffin-Lowry syndrome: a systematic review of RPS6KA3 confirmed cases and implications for diagnosis and counseling.

Maity S, Montion M, Boothe D, et al.

Frontiers in genetics 2025; (16()):1715229 doi:10.3389/fgene.2025.1715229.

Challenges in Diagnosis and Management of Coffin-Lowry Syndrome-Single-Center Experience.

Chirilas AM, Cărămizaru A, Riza AL, et al.

Diagnostics (Basel, Switzerland) 2026; (16(7)) doi:10.3390/diagnostics16070990.

[Coffin-Lowry syndrome: Case report in Mexico].

Pérez-Peña AK, Juárez-Melchor D, Hernández-Castañeda Y

Revista medica del Instituto Mexicano del Seguro Social 2026; (64(3)):e6738 doi:10.5281/zenodo.18715449.