Ontology highlight
ABSTRACT:
SUBMITTER: Yang Q
PROVIDER: S-EPMC7092535 | biostudies-literature | 2020 Mar
REPOSITORIES: biostudies-literature
Yang Qi Q Wang Jin J Tian Xiaoxian X Shen Fei F Lan Jing J Zhang Qiang Q Fan Xin X Yi Shang S Li Mengting M Shen Yiping Y
BMC medical genetics 20200324 1
<h4>Background</h4>Brachydactyly type A1(BDA-1) is an autosomal dominant disorder which is caused by heterozygous pathogenic variants in a specific region of the N-terminal active fragment of Indian Hedgehog (IHH). The disorder is mainly characterized by shortening or missing of the middle phalanges. In this study, Our purpose is to identify the pathogenic variations associated with BDA-1 involved in a five-generation Chinese family.<h4>Methods</h4>A BDA-1 family with 8 affected and 14 unaffecte ...[more]