Severe congenital microcephaly with AP4M1 mutation, a case report

• Main Authors: Sarah Duerinckx (Author), Helene Verhelst (Author), Camille Perazzolo (Author), Philippe David (Author), Laurence Desmyter (Author), Isabelle Pirson (Author), Marc Abramowicz (Author)
• Format: Book
• Published: BMC, 2017-05-01T00:00:00Z.
• Subjects: article
• Online Access: 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...