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Cohen syndrome : ウィキペディア英語版 | Cohen syndrome
Cohen syndrome (also known as Pepper syndrome or Cervenka syndrome, named after Michael Cohen, William Pepper and Jaroslav Cervenka, who researched the illness) is a genetic disorder. == Genetics ==
This syndrome is believed to be a gene mutation in chromosome 8 at locus 8q22 gene COH1. Cohen syndrome has several characteristics such as obesity, mental retardation and craniofacial dysmorphism. It has an autosomal recessive transmission with variable expression. There is some evidence that this syndrome has the same genetic cause as Mirhosseini-Holmes-Walton syndrome.
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