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Fairbanks disease : ウィキペディア英語版
Multiple epiphyseal dysplasia

Fairbanks disease or multiple epiphyseal dysplasia (MED) is a rare genetic disorder (dominant form—1 in 10,000 births) which affects the growing ends of bones. Bones usually elongate by a process that involves the depositing of cartilage at the ends of the bones, called ossification. This cartilage then mineralizes and hardens to become bone. In MED, this process is defective.
==Inheritance==
Multiple epiphyseal dysplasia (MED) encompasses a spectrum of skeletal disorders, most of which are inherited in an autosomal dominant form. However, there is also an autosomal recessive form.
Associated genes include COL9A2, COL9A3, COMP, and MATR3.
Types include:

抄文引用元・出典: フリー百科事典『 ウィキペディア(Wikipedia)
ウィキペディアで「Multiple epiphyseal dysplasia」の詳細全文を読む



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