A de novo synonymous variant in EFTUD2 disrupts normal splicing and causes mandibulofacial dysostosis with microcephaly: case report

BACKGROUND: Mandibulofacial dysostosis with microcephaly (MFDM) is a rare autosomal dominant genetic disease characterized by intellectual and growth retardations, as well as major microcephaly, induced by missense and splice site variants or microdeletions in the EFTUD2 gene. CASE PRESENTATION: Her...

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Detalles Bibliográficos
Autores principales: Jacob, Arthur, Pasquier, Jennifer, Carapito, Raphael, Auradé, Frédéric, Molitor, Anne, Froguel, Philippe, Fakhro, Khalid, Halabi, Najeeb, Viot, Géraldine, Bahram, Seiamak, Rafii, Arash
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2020
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7499997/
https://www.ncbi.nlm.nih.gov/pubmed/32943010
http://dx.doi.org/10.1186/s12881-020-01121-y

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7499997/
https://www.ncbi.nlm.nih.gov/pubmed/32943010
http://dx.doi.org/10.1186/s12881-020-01121-y

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