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Article

Mutation of a gene essential for ribosome biogenesis, EMG1, causes Bowen-Conradi syndrome.

American journal of human genetics - 1 Jun 2009

Armistead Joy, Khatkar Sunita, Meyer Britta, Mark Brian L, Patel Nehal, Coghlan Gail, Lamont Ryan E, Liu Shuangbo, Wiechert Jill, Cattini Peter A, Koetter Peter, Wrogemann Klaus, Greenberg Cheryl R, Entian Karl-Dieter, Zelinski Teresa, Triggs-Raine Barbara

Abstract excerpt

Bowen-Conradi syndrome (BCS) is an autosomal-recessive disorder characterized by severely impaired prenatal and postnatal growth, profound psychomotor retardation, and death in early childhood. Nearly all reported BCS cases have been among Hutterites, with an estimated birth prevalence of 1/355. We previously localized the BCS gene to a 1.9 Mbp interval on human chromosome 12p13.3. The 59 genes in this interval...

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Share to Chromosomes, Human, Pair 12
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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: 19463982
DOI: 10.1016/j.ajhg.2009.04.017
PMCID: PMC2694972

Genes

EMG1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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