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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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Detalles Bibliográficos
Autores principales:	Liu, Zhixu, Sun, Hao, Dai, Jiewen, Xue, Xiaochen, Sun, Jian, Wang, Xudong
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Frontiers Media S.A. 2021
Materias:	Genetics
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7971309/ https://www.ncbi.nlm.nih.gov/pubmed/33747042 http://dx.doi.org/10.3389/fgene.2021.616329

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