Ontology highlight
ABSTRACT:
SUBMITTER: Duerinckx S
PROVIDER: S-EPMC5414176 | biostudies-literature | 2017 May
REPOSITORIES: biostudies-literature
Duerinckx Sarah S Verhelst Helene H Perazzolo Camille C David Philippe P Desmyter Laurence L Pirson Isabelle I Abramowicz Marc M
BMC medical genetics 20170502 1
<h4>Background</h4>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.<h4>Case presentation</h4>We report on a patient with severe microcephaly of prenatal onset, and progressive spasticity, developmental delay, and severe intellectual deficiency. Exome sequencing showed a homozyg ...[more]