Article
A novel heterozygous mutation in PTHLH causing autosomal dominant brachydactyly type E complicated with short stature.
Molecular genetics & genomic medicine - 1 Feb 2024
Sun Jian, Yang Nian, Xu Zhengquan, Cheng Hongbo, Zhang Xiangxin
Abstract excerpt
BACKGROUND: Brachydactyly type E (BDE) is a general term characterized by variable shortening of metacarpals and metatarsals, with phalanges affected frequently. It can occur as an isolated form or part of syndromes and manifest a high degree of phenotypic variability. In this study, we have identified the clinical characteristics and pathogenic causes of a four-generation pedigree with 10 members affected by BDE...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.