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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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| Publicado no: | Front Genet |
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| Main Authors: | , , , , , |
| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
Frontiers Media S.A.
2021
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| Assuntos: | |
| Acesso em linha: | https://ncbi.nlm.nih.gov/pmc/articles/PMC7971309/ https://ncbi.nlm.nih.gov/pubmed/33747042 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.3389/fgene.2021.616329 |
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