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Article

Severe congenital microcephaly with AP4M1 mutation, a case report.

BMC medical genetics - 2 May 2017

Duerinckx Sarah, Verhelst Helene, Perazzolo Camille, David Philippe, Desmyter Laurence, Pirson Isabelle, Abramowicz Marc

Abstract excerpt

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 PRESENTATION: We report on a patient with severe microcephaly of prenatal onset, and progressive spasticity, developmental...

Topics

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ATR gene
BLM gene
MCPH1 gene
Infant, Newborn
Microcephaly

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 28464862
DOI: 10.1186/s12881-017-0412-9
PMCID: PMC5414176

Genes

ATR
BLM
MCPH1

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 1 Sept 2026.

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