Atypical mandibulofacial dysostosis with microcephaly diagnosed through the identification of a novel pathogenic mutation in EFTUD2

Abstract Background Mandibulofacial dysostosis with microcephaly (MFDM, OMIM# 610536) is a rare monogenic disease that is caused by a mutation in the elongation factor Tu GTP binding domain containing 2 gene (EFTUD2, OMIM* 603892). It is characterized by mandibulofacial dysplasia, microcephaly, malf...

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Ngā kaituhi matua:	Ying Chen, Run Yang, Xin Chen, Naier Lin, Chenlong Li, Yaoyao Fu, Aijuan He, Yimin Wang, Tianyu Zhang, Jing Ma
Hōputu:	Artigo
Reo:	Inglês
I whakaputaina:	Wiley 2024-04-01
Rangatū:	Molecular Genetics & Genomic Medicine
Ngā marau:	EFTUD2 mandibulofacial dysostosis MFDM whole‐exome sequencing
Urunga tuihono:	https://doi.org/10.1002/mgg3.2426
Ngā Tūtohu:	Tāpirihia he Tūtohu Kāore He Tūtohu, Me noho koe te mea tuatahi ki te tūtohu i tēnei pūkete!