Article

Autosomal dominant multiple pterygium syndrome is caused by mutations in MYH3

2015-04-03

Abstract excerpt

Multiple pterygium syndromes (MPS) are a phenotypically and genetically heterogeneous group of rare Mendelian conditions characterized by multiple pterygia, scoliosis and congenital contractures of the limbs. MPS typically segregates as an autosomal recessive disorder but rare instances of autosomal dominant transmission have been reported. While several mutations causing recessive MPS have been identified, the ge...

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Literature Corpus work: e5310df6-e0cc-5006-a0ed-806e91121616
DOI: 10.1101/017434

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