Article
Familial deletion of the HOXA gene cluster associated with Hand-Foot-Genital syndrome and phenotypic variability.
American journal of medical genetics. Part A - 1 Jan 2017
Tas Emir, Sebastian Jessica, Madan-Khetarpal Suneeta, Sweet Philip, Yatsenko Alexander N, Pollock Nijole, Rajkovic Aleksandar, Schneck Francis X, Yatsenko Svetlana A, Witchel Selma Feldman
Abstract excerpt
Hand-Foot-Genital syndrome is a rare autosomal dominant condition characterized by distal limb anomalies and urogenital malformations. This disorder is associated with loss-of-function mutations in the HOXA13 gene. HOXA13 plays an important role in the development of distal limbs and lower genitourinary tract of the fetus. We report a novel familial 589 kb deletion in the 7p15.2 region identified in a male...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.