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Article

Mutations in TGDS associated with additional malformations of the middle fingers and halluces: Atypical Catel-Manzke syndrome in a fetus.

American journal of medical genetics. Part A - 1 Jun 2017

Schoner Katharina, Bald Rainer, Horn Denise, Rehder Helga, Kornak Uwe, Ehmke Nadja

Abstract excerpt

Pierre-Robin sequence, radial deviation, and ulnar clinodactyly of the index fingers due to an additional phalangeal bone, as well as heart defects are the key features of Catel-Manzke syndrome. Although mutations in TGDS were identified as the cause of this disorder, the pathogenetic mechanism remains unknown. Here, we report on a fetus with severe heart defect, nuchal edema, talipes, Pierre-Robin sequence, and...

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Source

Identifiers

PMID: 28422407
DOI: 10.1002/ajmg.a.38209

Genes

TGDS

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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