Severe congenital microcephaly with AP4M1 mutation, a case report

• Auteurs principaux: Sarah Duerinckx (Auteur), Helene Verhelst (Auteur), Camille Perazzolo (Auteur), Philippe David (Auteur), Laurence Desmyter (Auteur), Isabelle Pirson (Auteur), Marc Abramowicz (Auteur)
• Format: Livre
• Publié: BMC, 2017-05-01T00:00:00Z.
• Sujets: article
• Accès en ligne: Connect to this object online.

Abstract Background Autosomal recessive defects of either the B1, E1, M1 or S1 subunit of the Adaptor Protein complex-4 (AP4) are characterized by developmental delay, severe intellectual disability, spasticity, and occasionally mild to moderate microcephaly of essentially postnatal onset. Case pres...