Author:
Plaisancié J.,Ceroni F.,Holt R.,Zazo Seco C.,Calvas P.,Chassaing N.,Ragge Nicola K.
Funder
Baillie Gifford
Microphthalmia, Anophthalmia, Coloboma Support
Oxford Brookes University Central Research Fund
Fondation Maladies Rares
Fondation de France
Retina France
French National Research Agency
Publisher
Springer Science and Business Media LLC
Subject
Genetics(clinical),Genetics
Reference292 articles.
1. Abouzeid H, Youssef MA, Bayoumi N, ElShakankiri N, Marzouk I, Hauser P, Schorderet DF (2012) RAX and anophthalmia in humans: evidence of brain anomalies. Mol Vis 18:1449–1456
2. Abouzeid H, Favez T, Schmid A, Agosti C, Youssef M, Marzouk I, El Shakankiry N, Bayoumi N, Munier FL, Schorderet DF (2014) Mutations in ALDH1A3 represent a frequent cause of microphthalmia/anophthalmia in consanguineous families. Hum Mutat 35:949–953.
https://doi.org/10.1002/humu.22580
3. Aijaz S, Clark BJ, Williamson K, van Heyningen V, Morrison D, Fitzpatrick D, Collin R, Ragge N, Christoforou A, Brown A, Hanson I (2004) Absence of SIX6 mutations in microphthalmia, anophthalmia, and coloboma. Investig Ophthalmol Vis Sci 45:3871–3876.
https://doi.org/10.1167/iovs.04-0641
4. Akizu N, Shembesh NM, Ben-Omran T, Bastaki L, Al-Tawari A, Zaki MS, Koul R, Spencer E, Rosti RO, Scott E, Nickerson E, Gabriel S, da Gente G, Li J, Deardorff MA, Conlin LK, Horton MA, Zackai EH, Sherr EH, Gleeson JG (2013) Whole-exome sequencing identifies mutated c12orf57 in recessive corpus callosum hypoplasia. Am J Hum Genet 92:392–400
5. Alabdullatif MA, Al Dhaibani MA, Khassawneh MY, El-Hattab AW (2017) Chromosomal microarray in a highly consanguineous population: diagnostic yield, utility of regions of homozygosity, and novel mutations. Clin Genet 91:616–622.
https://doi.org/10.1111/cge.12872
Cited by
59 articles.
订阅此论文施引文献
订阅此论文施引文献,注册后可以免费订阅5篇论文的施引文献,订阅后可以查看论文全部施引文献