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A novel mutation of HOXA13 in a family with hand-foot-genital syndrome and the role of polyalanine expansions in the spectrum of müllerian fusion anomalies

✍ Scribed by E.M. Jorgensen; J.I. Ruman; L. Doherty; H.S. Taylor


Book ID
116475419
Publisher
Elsevier Science
Year
2009
Tongue
English
Weight
39 KB
Volume
92
Category
Article
ISSN
1556-5653

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## Abstract In a Chinese myoclonus‐dystonia syndrome (MDS) family presented with a phenotype including a typical MDS, cervical dystonia, and writer's cramp, genetic analyses revealed a novel 662 + 1insG heterozygous mutation in exon 5 in the ε‐sarcoglycan (__SGCE__) gene, leading to a frameshift wi