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Article

Autosomal recessive Adams-Oliver syndrome caused by homozygous mutation in EOGT, encoding an EGF domain-specific O-GlcNAc transferase.

European journal of human genetics : EJHG - 1 Mar 2014

Cohen Idan, Silberstein Eldad, Perez Yonatan, Landau Daniella, Elbedour Khalil, Langer Yshaia, Kadir Rotem, Volodarsky Michael, Sivan Sara, Narkis Ginat, Birk Ohad S

Abstract excerpt

Autosomal recessive Adams-Oliver syndrome was diagnosed in three remotely related Bedouin consanguineous families. Genome-wide linkage analysis ruled out association with known Adams-Oliver syndrome genes, identifying a single-homozygosity ∼1.8-Mb novel locus common to affected individuals (LOD score 3.37). Whole-exome sequencing followed by Sanger sequencing identified only a single mutation within this locus,...

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Source

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Identifiers

PMID: 23860037
DOI: 10.1038/ejhg.2013.159
PMCID: PMC3925282

Genes

EOGT
EGF

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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Autosomal recessive Adams-Oliver syndrome caused by homozygous mutation in EOGT, encoding an EGF domain-specific O-GlcNAc transferase.PMID 23860037Read ↗

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