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Article

DOORS syndrome: phenotype, genotype and comparison with Coffin-Siris syndrome.

American journal of medical genetics. Part C, Seminars in medical genetics - 1 Sept 2014

Campeau Philippe M, Hennekam Raoul C

Abstract excerpt

DOORS syndrome (Deafness, Onychodystrophy, Osteodystrophy, mental Retardation, Seizures) is characterized mainly by sensorineural deafness, shortened terminal phalanges with small nails of hands and feet, intellectual deficiency, and seizures. Half of the patients with all clinical features have mutations in TBC1D24. We review here the manifestations of patients clinically diagnosed with DOORS syndrome. In this...

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Identifiers

PMID: 25169651
DOI: 10.1002/ajmg.c.31412

Genes

SMARCB1

Variants

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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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