AUTHOR=Liu Zhixu , Sun Hao , Dai Jiewen , Xue Xiaochen , Sun Jian , Wang Xudong TITLE=ITPR1 Mutation Contributes to Hemifacial Microsomia Spectrum JOURNAL=Frontiers in Genetics VOLUME=Volume 12 - 2021 YEAR=2021 URL=https://www.frontiersin.org/journals/genetics/articles/10.3389/fgene.2021.616329 DOI=10.3389/fgene.2021.616329 ISSN=1664-8021 ABSTRACT=
Hemifacial microsomia (HM) is a craniofacial congenital defect involving the first and second branchial arch, mainly characterized by ocular, ear, maxilla-zygoma complex, mandible, and facial nerve malformation. HM follows autosomal dominant inheritance. Whole-exome sequencing of a family revealed a missense mutation in a highly conserved domain of