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Recurrent mandibulofacial dysostosis, Guion-Almeida type in consecutive pregnancies due to maternal mosaicism of a novel EFTUD2 variant: a case report and review of the literature

Abstract Background Mandibulofacial dysostosis, Guion-Almeida type is an autosomal dominant disorder characterized by craniofacial malformations and intellectual disability. Pathogenic EFTUD2 variants represent the primary genetic etiology of Mandibulofacial dysostosis, Guion-Almeida type. In this r...

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Principais autores: Bing Wang, Chunxiao Hua, Qimeng Liu, Dajun Cai
Format: Artigo
Sprog:Inglês
Udgivet: BMC 2026-01-01
Serier:Journal of Medical Case Reports
Fag:
Mandibulofacial dysostosis
Guion-Almeida type
EFTUD2
Whole-exome sequencing
Prenatal diagnosis
Mosaicism
Online adgang:https://doi.org/10.1186/s13256-025-05741-x
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