Corneal clouding, cataract, and colobomas with a novel missense mutation inB4GALT7-a review of eye anomalies in the linkeropathy syndromes

Author:

Arunrut Teda1,Sabbadini Marta1,Jain Mahim2,Machol Keren2,Scaglia Fernando2,Slavotinek Anne1

Affiliation:

1. Division of Genetics; Department of Pediatrics; University of California; San Francisco California

2. Department of Medical Genetics; Baylor College of Medicine; Houston Texas

Publisher

Wiley

Subject

Genetics(clinical),Genetics

Reference31 articles.

1. An integrated map of genetic variation from 1,092 human genomes;Nature,2012

2. A method and server for predicting damaging missense mutations;Adzhubei;Nat Method,2010

3. Spondylo-ocular syndrome: A new entity involving the eye and spine;Alanay;Am J Med Genet Part A,2006

4. Expanding the clinical and genetic heterogeneity of hereditary disorders of connective tissue;Alazami;Hum Genet,2016

5. Anterior segment anomalies of the eye, clefting and skeletal abnormalities in two sibs of consanguineous parents: Michels syndrome or a new syndrome;al Gazali;Clin Dysmorphol,1994

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