First direct evidence of involvement of a homozygous loss-of-function variant in the EPS15L1 gene underlying split-hand/split-foot malformation
Author:
Affiliation:
1. Department of Biochemistry, Faculty of Biological Sciences; Quaid-i-Azam University; Islamabad Pakistan
2. Center for Genetics and Inherited Diseases; Taibah University; Al Madinah Saudi Arabia
Funder
Higher Education Commission, Pakistan
Publisher
Wiley
Subject
Genetics(clinical),Genetics
Link
http://onlinelibrary.wiley.com/wol1/doi/10.1111/cge.13152/fullpdf
Reference25 articles.
1. Brunner HG. Pathogenesis of split-hand/split-foot malformation;Duijf;Hum Mol Genet,2003
2. The association of split hand foot malformation (SHFM) and congenital heart defects;Elliott;Birth Defects Res A Clin Mol Teratol,2008
3. Fine mapping of the autosomal dominant split hand/split foot locus on chromosome 7 band q21.3-q22.1;Scherer;Am J Hum Genet,1994
4. X chromosomal split-hand/split-foot anomaly maps to Xq26;Faiyaz ul Haque;Hum Genet,1993
5. A second autosomal split hand/split foot locus maps to chromosome 10q24-q25;Nunes;Hum Mol Genet,1995
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