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Article

Carpal and tarsal synostoses and transverse reduction defects of the toes in two brothers heterozygous for a double de novo NOGGIN mutation.

American journal of medical genetics. Part A - 30 Apr 2005

Debeer Philippe, Huysmans Christel, Van de Ven Wim J M, Fryns Jean-Pierre, Devriendt Koen

Abstract excerpt

We describe two siblings with carpal and tarsal synostoses associated with transverse deficiencies of the toes. Mutation analysis of the NOG gene revealed a double missense mutation in both boys resulting in Pro42Ala and Pro50Arg. The parents were clinically unaffected, and these two mutations we...

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Source

Identifiers

PMID: 15736221
DOI: 10.1002/ajmg.a.30645

Genes

NOG

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026. Prepared record publication-15736221-2026-09-02.2. Manifest publication-graph-cohort-2026-09-02.2.

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

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Carpal and tarsal synostoses and transverse reduction defects of the toes in two brothers heterozygous for a double de novo NOGGIN mutation.PMID 15736221Read ↗

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