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Article

Genetic architecture and phenotypic landscape of deafness and onychodystrophy syndromes.

Human genetics - 1 Apr 2022

Gao Xue, Dai Pu, Yuan Yong-Yi

Abstract excerpt

Deafness and onychodystrophy syndromes are a group of phenotypically overlapping syndromes, which include DDOD syndrome (dominant deafness-onychodystrophy), DOORS syndrome (deafness, onychodystrophy, osteodystrophy, mental retardation and seizures) and Zimmermann-Laband syndrome (gingival hypertrophy, coarse facial features, hypoplasia or aplasia of nails and terminal phalanges, intellectual disability, and...

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Source

Identifiers

PMID: 34232384
DOI: 10.1007/s00439-021-02310-2

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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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