ITPR1 Mutation Contributes to Hemifacial Microsomia Spectrum

ITPR1 Mutation Contributes to Hemifacial Microsomia Spectrum

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...

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Bibliographic Details
Main Authors: Zhixu Liu, Hao Sun, Jiewen Dai, Xiaochen Xue, Jian Sun, Xudong Wang
Format: Article
Language:English
Published: Frontiers Media S.A. 2021-03-01
Series:Frontiers in Genetics
Subjects:
hemifacial microsomia
ITPR1
PLCB4
DLX5
DLX6
zebrafish
Online Access:https://www.frontiersin.org/articles/10.3389/fgene.2021.616329/full

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https://www.frontiersin.org/articles/10.3389/fgene.2021.616329/full

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