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Article

A mother and daughter with a novel phenotype of hand and foot abnormalities and severe pectus excavatum.

American journal of medical genetics. Part A - 1 Aug 2013

Low Karen, Smith James, Lee Simon, Newbury-Ecob Ruth

Abstract excerpt

A mother and daughter with an overlapping Catel-Manzke and Temtamy preaxial brachydactyly hyperphalangism syndrome phenotype are reported. We describe a phenotype with a previously undescribed genetic basis. .

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Share to Comparative Genomic Hybridization
Share to Foot Deformities, Congenital
Share to Hand Deformities, Congenital

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 23824731
DOI: 10.1002/ajmg.a.36016

Provenance

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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