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.
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Bambino Gesù Children's Hospital
Rome, Italy
Federico II University Hospital
Naples, Italy
Institute of Genetic and Biomedical Research
Monserrato, Italy
References
References (15)
- 1
Mutations in NDUFB11, encoding a complex I component of the mitochondrial respiratory chain, cause microphthalmia with linear skin defects syndrome.
van Rahden VA, Fernandez-Vizarra E, Alawi M, et al.
American journal of human genetics 2015; (96(4)):640-50.
PMID: 25772934 - 2
Congenital aplasia/hypoplasia of the Epiglottis-A case report and a review of the literature.
Dritsoula AK, Thevasagayam MS
International journal of pediatric otorhinolaryngology 2015; (79(10)):1609-12.
PMID: 26279246 - 3
A novel mutation in NDUFB11 unveils a new clinical phenotype associated with lactic acidosis and sideroblastic anemia.
Torraco A, Bianchi M, Verrigni D, et al.
Clinical genetics 2017; (91(3)):441-447 doi:10.1111/cge.12790.
PMID: 27102574 - 4
Histiocytoid cardiomyopathy and microphthalmia with linear skin defects syndrome: phenotypes linked by truncating variants in NDUFB11.
Rea G, Homfray T, Till J, et al.
Cold Spring Harbor molecular case studies 2017; (3(1)):a001271 doi:10.1101/mcs.a001271.
PMID: 28050600 - 5
Focal Dermal Hypoplasia (Goltz Syndrome): A Cross-sectional Study from Eastern India.
Ghosh SK, Dutta A, Sarkar S, et al.
Indian journal of dermatology 2017; (62(5)):498-504 doi:10.4103/ijd.IJD_317_17.
PMID: 28979012 - 6
Microphthalmia, Dermal Aplasia, and Sclerocornea Syndrome: Endoscopic Cyclophotocoagulation in the Management of Congenital Glaucoma.
Thompson AC, Thompson MO, Lim ME, et al.
Journal of glaucoma 2018; (27(1)):e7-e10 doi:10.1097/IJG.0000000000000812.
PMID: 29088057 - 7
A mosaic form of microphthalmia with linear skin defects.
Prepeluh N, Korpar B, Zagorac A, et al.
BMC pediatrics 2018; (18(1)):254 doi:10.1186/s12887-018-1234-4.
PMID: 30068298 - 8
Microphthalmia and linear skin defects syndrome: Precise diagnosis guides prognosis.
Satcher KG, Maegawa GHB, Schoch JJ
Pediatric dermatology 2020; (37(1)):217-218 doi:10.1111/pde.13946.
PMID: 31373408 - 9
Microphthalmia, Linear Skin Defects, Callosal Agenesis, and Cleft Palate in a Patient with Deletion at Xp22.3p22.2.
Vendramini-Pittoli S, Candido-Souza RM, Quiezi RG, et al.
Journal of pediatric genetics 2020; (9(4)):258-262 doi:10.1055/s-0039-3402047.
PMID: 32765930 - 10
Neonatal Lateral Epiglottic Defects.
Peterson JD, Goyal V, Puricelli MD, et al.
The Annals of otology, rhinology, and laryngology 2021; (130(3)):311-313 doi:10.1177/0003489420948546.
PMID: 32772542 - 11
[Congenital high airway obstruction syndrome (CHAOS): a case report].
Moussaoui KE, Slaoui A, Baidada A, Kharabch A
The Pan African medical journal 2021; (38()):1 doi:10.11604/pamj.2021.38.1.27283.
PMID: 33520070 - 12
Linear Skin Defects with Multiple Congenital Anomalies (LSDMCA): An Unconventional Mitochondrial Disorder.
Indrieri A, Franco B
Genes 2021; (12(2)) doi:10.3390/genes12020263.
PMID: 33670341 - 13
Variable phenotype of secondary congenital corneal opacities associated with microphthalmia with linear skin defects syndrome.
Franco E, Scanga HL, Nischal KK
American journal of medical genetics. Part A 2023; (191(2)):586-591 doi:10.1002/ajmg.a.63043.
PMID: 36369709 - 14
Novel Intragenic and Genomic Variants Highlight the Phenotypic Variability in HCCS-Related Disease.
Reis LM, Basel D, Bitoun P, et al.
Genes 2024; (15(12)) doi:10.3390/genes15121636.
PMID: 39766903 - 15
Revisiting LSDMCA: male lethality escape and genotype-phenotype correlations.
D'Alessio AM, Indrieri A, Vitiello G, et al.
European journal of human genetics : EJHG 2026; (34(7)):972-979 doi:10.1038/s41431-026-02098-7.
PMID: 42014911