Mutations inALDH1A3Represent a Frequent Cause of Microphthalmia/Anophthalmia in Consanguineous Families-Reference-Cited by-同舟云学术

Mutations inALDH1A3Represent a Frequent Cause of Microphthalmia/Anophthalmia in Consanguineous Families

Published:2014-06-03 Issue:8 Volume:35 Page:949-953
ISSN:1059-7794
Container-title:Human Mutation
language:en
Short-container-title:Human Mutation

Author:

Abouzeid Hana¹²,Favez Tatiana¹,Schmid Angélique¹,Agosti Céline¹,Youssef Mohammed³,Marzouk Iman³,El Shakankiry Nihal⁴,Bayoumi Nader⁴,Munier Francis L.¹²,Schorderet Daniel F.¹²⁵

Affiliation:

1. IRO - Institute for Research in Ophthalmology; Sion Switzerland

2. Jules-Gonin Eye Hospital; Fondation Asile des Aveugles; University of Lausanne; Lausanne (UNIL); Switzerland

3. Department of Pediatrics; University of Alexandria; Alexandria Egypt

4. Department of Ophthalmology; University of Alexandria; Alexandria Egypt

5. Faculty of Life Sciences; Ecole polytechnique fédérale de Lausanne (EPFL); Lausanne Switzerland

Publisher

Wiley

Subject

Genetics(clinical),Genetics

Link

http://onlinelibrary.wiley.com/wol1/doi/10.1002/humu.22580/fullpdf

Reference21 articles.

1. Mutations in the SPARC-related modular calcium-binding protein 1 gene, SMOC1, cause waardenburg anophthalmia syndrome;Abouzeid;Am J Hum Genet,2011

2. RAX and anophthalmia in humans: evidence of brain anomalies;Abouzeid;Mol Vis,2012

3. Mutations in ALDH1A3 cause microphthalmia;Aldahmesh;Clin Genet,2013

4. Incomplete penetrance and phenotypic variability characterize Gdf6-attributable oculo-skeletal phenotypes;Asai-Coakwell;Hum Mol Genet,2009

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