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

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 sp...

Source: BMC Medical Genetics - September 17, 2020 Category: Genetics & Stem Cells Authors: Arthur Jacob, Jennifer Pasquier, Raphael Carapito, Fr édéric Auradé, Anne Molitor, Philippe Froguel, Khalid Fakhro, Najeeb Halabi, Géraldine Viot, Seiamak Bahram and Arash Rafii Tags: Case report Source Type: research