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- Title
A Japanese family with a heterozygous novel mutation in the Indian hedgehog gene exhibiting a broad spectrum of clinical features and radiological findings.
- Authors
Onuki, Takanori; Shibata, Nao; Hiroshima, Shota; Sawano, Kentaro; Nagasaki, Keisuke
- Abstract
The Indian hedgehog gene ( I IHH i ; NM 002181.4) is mapped on chromosome 2q35-36 and encodes the IHH protein belonging to the Hedgehog protein family. As is well known, hedgehog proteins play various roles in embryonic developmental processes.1,2 IHH is expressed in prehypertrophic and hypertrophic chondrocytes and has a cardinal role in endochondral bone development.2 Heterozygous variants of I IHH i cause brachydactyly type A1 (BDA1; OMIM 112500),1 while homozygous variants result in acrocapitofemoral dysplasia (ACFD; OMIM 607778).
- Publication
Congenital Anomalies, 2022, Vol 62, Issue 1, p47
- ISSN
0914-3505
- Publication type
Academic Journal
- DOI
10.1111/cga.12445