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Article

Copb2 is essential for embryogenesis and hypomorphic mutations cause human microcephaly.

Human molecular genetics - 15 Dec 2017

DiStasio Andrew, Driver Ashley, Sund Kristen, Donlin Milene, Muraleedharan Ranjith M, Pooya Shabnam, Kline-Fath Beth, Kaufman Kenneth M, Prows Cynthia A, Schorry Elizabeth, Dasgupta Biplab, Stottmann Rolf W

Abstract excerpt

Primary microcephaly is a congenital brain malformation characterized by a head circumference less than three standard deviations below the mean for age and sex and results in moderate to severe mental deficiencies and decreased lifespan. We recently studied two children with primary microcephaly in an otherwise unaffected family. Exome sequencing identified an autosomal recessive mutation leading to an amino...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

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Identifiers

PMID: 29036432
DOI: 10.1093/hmg/ddx362
PMCID: PMC5886270

Genes

COPB2

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026. Manifest publication-graph-cohort-2026-09-05.1.

Source receipt: pubmed, retrieved 5 Sept 2026.

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