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Whole-Exome Sequencing Reveals Rare Germline Mutations in Patients With Hemifacial Microsomia

Hemifacial microsomia (HFM) is a rare congenital disease characterized by a spectrum of craniomaxillofacial malformations, including unilateral hypoplasia of the mandible and surrounding structures. Genetic predisposition for HFM is evident but the causative genes have not been fully understood. Thu...

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Detalles Bibliográficos
Autores principales: Chen, Xiaojun, Liu, Fatao, Mar Aung, Zin, Zhang, Yan, Chai, Gang
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2021
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8165440/
https://www.ncbi.nlm.nih.gov/pubmed/34079577
http://dx.doi.org/10.3389/fgene.2021.580761