Cargando…

A novel de novo missense mutation in EFTUD2 identified by whole‐exome sequencing in mandibulofacial dysostosis with microcephaly

BACKGROUND: Mandibulofacial dysostosis with microcephaly (MFDM) is a rare multiple malformation syndrome characterized by malar and mandibular hypoplasia and congenital‐ or postnatal‐onset microcephaly induced by haploinsufficiency of (elongation factor Tu GTP‐binding domain‐containing 2) EFTUD2. ME...

Descripción completa

Detalles Bibliográficos
Autores principales: Yang, Mei, Liu, Yanyan, Lin, Ziyuan, Sun, Huaqin, Hu, Ting
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2022
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9102503/
https://www.ncbi.nlm.nih.gov/pubmed/35435265
http://dx.doi.org/10.1002/jcla.24440

Ejemplares similares