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...

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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:
Case Report
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

Internet

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

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