Autosomal recessive congenital cataract, intellectual disability phenotype linked toSTX3in a consanguineous Tunisian family

Author:

Chograni M.1,Alkuraya F.S.2,Ourteni I.3,Maazoul F.3,Lariani I.1,Chaabouni H.B.13

Affiliation:

1. Laboratory of Human Genetics, Faculty of Medicine of Tunis; University Tunis ElManar; Tunis Tunisia

2. Developmental Genetics Unit; King Faisal Specialist Hospital and Research Center; Riyad Saudi Arabia

3. Congenital and Hereditary Disorders Department; Charles Nicolle hospital; Tunis Tunisia

Publisher

Wiley

Subject

Genetics(clinical),Genetics

Reference11 articles.

1. Cataract mutations and lens development;Graw;Prog Retin Eye Res,1999

2. Congenital cataracts: gene mapping;He;Hum Genet,2000

3. Cat-Map: putting cataract on the map;Shiels;Mol Vis,2010

4. iSyTE: integrated systems tool for eye gene discovery;Lachke;Invest Ophthalmol Vis Sci,2012

5. ESyPred3D: prediction of proteins 3D structures;Lambert;Bioinformatics,2002

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