Article
Microduplication of 7q36.3 encompassing the SHH long‑range regulator (ZRS) in a patient with triphalangeal thumb‑polysyndactyly syndrome and congenital heart disease.
Molecular medicine reports - 1 Feb 2017
Liu Zhenghua, Yin Ni, Gong Lianghui, Tan Zhiping, Yin Bangliang, Yang Yifeng, Luo Cheng
Abstract excerpt
Triphalangeal thumb‑polysyndactyly syndrome (TPT‑PS) is an autosomal dominant disorder with complete penetrance and a variable expression consisting of opposable triphalangeal thumbs, duplication of the distal thumb phalanx, pre‑axial polydactyly and duplication of the big toes (hallux). The causative gene of TPT‑PS has been mapped to 7q36.3. Sonic hedgehog (SHH) expressed in the zone of polarizing activity (ZPA)...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.