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Article

DOOR syndrome: clinical report, literature review and discussion of natural history.

American journal of medical genetics. Part A - 1 Dec 2007

James Aaron W, Miranda Suzette G, Culver Kathy, Hall Bryan D, Golabi Mahin

Abstract excerpt

DOOR syndrome (deafness, onychodystrophy, osteodystrophy, and mental retardation) is a rarely described disorder with less than 35 reports in the literature. The hallmarks of the syndrome, represented in the DOOR acronym, include sensorineural hearing loss, hypoplastic or absent nails on the hand...

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Source

Identifiers

PMID: 17994565
DOI: 10.1002/ajmg.a.32054

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026. Prepared record publication-17994565-2026-09-02.2. Manifest publication-graph-cohort-2026-09-02.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 2 Sept 2026.

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DOOR syndrome: clinical report, literature review and discussion of natural history.PMID 17994565Read ↗

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