Ontology highlight
ABSTRACT:
SUBMITTER: Jacob A
PROVIDER: S-EPMC7499997 | biostudies-literature | 2020 Sep
REPOSITORIES: biostudies-literature
Jacob Arthur A Pasquier Jennifer J Carapito Raphael R Auradé Frédéric F Molitor Anne A Froguel Philippe P Fakhro Khalid K Halabi Najeeb N Viot Géraldine G Bahram Seiamak S Rafii Arash A
BMC medical genetics 20200917 1
<h4>Background</h4>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.<h4>Case presentation</h4>Here, we investigate the case of a young girl with symptoms of MFDM and a normal karyotype. Whole-exome sequencing of the family was performed to identify genetic alterations responsible for ...[more]