A de novo start-loss in EFTUD2 associated with mandibulofacial dysostosis with microcephaly: case report

Mandibulofacial dysostosis with microcephaly (MFDM) is a rare genetic disorder inherited in an autosomal dominant pattern. Major characteristics include developmental delay, craniofacial malformations such as malar and mandibular hypoplasia, and ear anomalies. Here, we report a 4.5-yr-old female pat...

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Detalles Bibliográficos
Autores principales: Kohailan, Muhammad, Al-Saei, Omayma, Padmajeya, Sujitha, Aamer, Waleed, Elbashir, Najwa, Al-Shabeeb Akil, Ammira, Kamboh, Abdul-Rauf, Fakhro, Khalid
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Cold Spring Harbor Laboratory Press 2022
Materias:
Research Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9235844/
https://www.ncbi.nlm.nih.gov/pubmed/35732499
http://dx.doi.org/10.1101/mcs.a006206

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