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Worth syndrome
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Worth syndrome : ウィキペディア英語版
Worth syndrome

Worth syndrome, also known as benign form of Worth hyperostosis corticalis generalisata with torus platinus, autosomal dominant osteosclerosis, autosomal dominant endosteal hyperostosis or Worth disease, is a rare autosomal dominant congenital disorder that is caused by a mutation in the LRP5 gene.〔 It is characterized by increased bone density and benign bony structures on the palate.〔〔(【引用サイトリンク】title=Worth Syndrome )
==Cause and Genetics==

Worth syndrome is caused by a mutation in the LRP5 gene, located on human chromosome 11q13.4.〔 The disorder is inherited in an autosomal dominant fashion.〔 This indicates that the defective gene responsible for a disorder is located on an autosome (chromosome 11 is an autosome), and only one copy of the defective gene is sufficient to cause the disorder, when inherited from a parent who has the disorder.

抄文引用元・出典: フリー百科事典『 ウィキペディア(Wikipedia)
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