Al-Qattan, Mohammad M

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