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Article

Tarsal-carpal coalition syndrome: Report of a novel missense mutation in NOG gene and phenotypic delineation.

American journal of medical genetics. Part A - 1 Jan 2018

Das Bhowmik Aneek, Salem Ramakumaran Vijayalakshmi, Dalal Ashwin

Abstract excerpt

We report a family of Indian origin presenting with Tarsal-carpal coalition syndrome (TCC), which is a rare genetic disorder of skeletal abnormalities, inherited in autosomal dominant manner. In this family, three individuals (mother and two children) were found to be similarly affected with slight intrafamilial individual variability in the phenotype. Sanger sequencing revealed a novel heterozygous missense...

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Source

Identifiers

PMID: 29159868
DOI: 10.1002/ajmg.a.38544

Genes

NOG

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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