Severe congenital microcephaly with AP4M1 mutation, a case report

Severe congenital microcephaly with AP4M1 mutation, a case report

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...

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Bibliographic Details
Main Authors: Sarah Duerinckx, Helene Verhelst, Camille Perazzolo, Philippe David, Laurence Desmyter, Isabelle Pirson, Marc Abramowicz
Format: Article
Language:English
Published: BMC 2017-05-01
Series:BMC Medical Genetics
Subjects:
Exome sequencing
Brain development
Consanguinity
Intellectual disability
Case report
Online Access:http://link.springer.com/article/10.1186/s12881-017-0412-9

Internet

http://link.springer.com/article/10.1186/s12881-017-0412-9

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