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Article

Complex Camptosynpolydactyly and Mesoaxial synostotic syndactyly with phalangeal reduction are allelic disorders.

American journal of medical genetics. Part A - 1 Jun 2016

Phadke Shubha R, Kar Anjana, Bhowmik Aneek Das, Dalal Ashwin

Abstract excerpt

Complex Camptosynpolydactyly is an autosomal recessive disorder characterized by complex hand deformities described earlier by us in a consanguineous family. We report on identification of mutations in BHLHA9 gene in this condition. Our results indicate that Complex Camptosynpolydactyly and Mesoaxial synostotic syndactyly with phalangeal reduction (MSSD) are likely to be allelic disorders. © 2016 Wiley...

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Identifiers

PMID: 27041388
DOI: 10.1002/ajmg.a.37643

Genes

BHLHA9

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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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