Complex camptosynpolydactyly and mesoaxial synostotic syndactyly with phalangeal reduction are allelic disorders

Kar, Anjana (2017) Complex camptosynpolydactyly and mesoaxial synostotic syndactyly with phalangeal reduction are allelic disorders. American journal of medical genetics. Part - A, 170 (6). pp. 1622-1625. ISSN 1552-4825

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Abstract

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.

Item Type: Article
Uncontrolled Keywords: BHLHA9; camptosynpolydactyly; exome sequencing; limb deformity; mesoaxial synostotic syndactyly; polydactyly.
Subjects: Research > Research Center - Health Sciences
Depositing User: KMC Library
Date Deposited: 24 Jul 2017 06:44
Last Modified: 24 Jul 2017 06:44
URI: http://eprints.manipal.edu/id/eprint/149415

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