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Article

ABCD syndrome is caused by a homozygous mutation in the EDNRB gene.

American journal of medical genetics - 15 Mar 2002

Verheij Joke B G M, Kunze Jürgen, Osinga Jan, van Essen Anthonie J, Hofstra Robert M W

Abstract excerpt

ABCD syndrome is an autosomal recessive syndrome characterized by albinism, black lock, cell migration disorder of the neurocytes of the gut (Hirschsprung disease [HSCR]), and deafness. This phenotype clearly overlaps with the features of the Shah-Waardenburg syndrome, comprising sensorineural deafness; hypopigmentation of skin, hair, and irides; and HSCR. Therefore, we screened DNA of the index patient of the...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 11891690
DOI: 10.1002/ajmg.10172

Genes

EDNRB

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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ABCD syndrome is caused by a homozygous mutation in the EDNRB gene.PMID 11891690Read ↗

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