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Article

Genotype-phenotype relationships in Freeman-Sheldon syndrome.

American journal of medical genetics. Part A - 1 Nov 2014

Beck Anita E, McMillin Margaret J, Gildersleeve Heidi I S, Shively Kathryn M B, Tang Andy, Bamshad Michael J

Abstract excerpt

Distal arthrogryposis (DA) syndromes are a group of disorders characterized by multiple congenital contractures. DA type 2A (DA2A or Freeman-Sheldon syndrome), caused by mutations in MYH3, is typically considered the most severe of the DA syndromes. However, there is wide phenotypic variability among individuals with DA2A. We characterized genotype-phenotype relationships in 46 families with DA2A. MYH3 mutations...

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Source

Identifiers

PMID: 25256237
DOI: 10.1002/ajmg.a.36762

Genes

MYH3

Variants

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