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

• Main Authors: Arthur Jacob (Author), Jennifer Pasquier (Author), Raphael Carapito (Author), Frédéric Auradé (Author), Anne Molitor (Author), Philippe Froguel (Author), Khalid Fakhro (Author), Najeeb Halabi (Author), Géraldine Viot (Author), Seiamak Bahram (Author), Arash Rafii (Author)
• Format: Book
• Published: BMC, 2020-09-01T00:00:00Z.
• Subjects: article
• Online Access: Connect to this object online.

Abstract 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 presentat...