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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Detalhes bibliográficos
Publicado no:BMC Med Genet
Main Authors: Jacob, Arthur, Pasquier, Jennifer, Carapito, Raphael, Auradé, Frédéric, Molitor, Anne, Froguel, Philippe, Fakhro, Khalid, Halabi, Najeeb, Viot, Géraldine, Bahram, Seiamak, Rafii, Arash
Formato: Artigo
Idioma:Inglês
Publicado em: BioMed Central 2020
Assuntos:
Case Report
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC7499997/
https://ncbi.nlm.nih.gov/pubmed/32943010
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s12881-020-01121-y
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