A novel homozygous nonsense mutation in the PVRL4 gene and expansion of clinical spectrum of EDSS1. [electronic resource]
- Annals of human genetics Mar 2015
- 92-8 p. digital
Publication Type: Journal Article; Research Support, Non-U.S. Gov't
1469-1809
10.1111/ahg.12094 doi
Adult Cell Adhesion Molecules--genetics Codon, Nonsense Consanguinity DNA Mutational Analysis Ectodermal Dysplasia--genetics Female Humans Male Pakistan Syndactyly--genetics