A novel mutation in the SHH long-range regulator (ZRS) is associated with preaxial polydactyly, triphalangeal thumb, and severe radial ray deficiency. [electronic resource]
- American journal of medical genetics. Part A Oct 2012
- 2610-5 p. digital
Publication Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't
1552-4833
10.1002/ajmg.a.35584 doi
Enhancer Elements, Genetic--genetics Family Female Hand Deformities, Congenital--genetics Hedgehog Proteins--chemistry Humans Male Point Mutation Polydactyly--genetics Radius--pathology Thumb--abnormalities