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A Mutation in VWA1, Encoding von Willebrand Factor A Domain-Containing Protein 1, Is Associated With Hemifacial Microsomia

BACKGROUND: Hemifacial microsomia (HFM) is a type of rare congenital syndrome caused by developmental disorders of the first and second pharyngeal arches that occurs in one out of 5,600 live births. There are significant gaps in our knowledge of the pathogenic genes underlying this syndrome. METHODS...

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Detalles Bibliográficos
Autores principales: Wang, Yibei, Ping, Lu, Luan, Xiaodong, Chen, Yushan, Fan, Xinmiao, Li, Lianyan, Liu, Yaping, Wang, Pu, Zhang, Shuyang, Zhang, Bo, Chen, Xiaowei
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2020
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7509151/
https://www.ncbi.nlm.nih.gov/pubmed/33015062
http://dx.doi.org/10.3389/fcell.2020.571004