| 翻訳と辞書 |
| Weissenbacher-Zweymuller syndrome ： ウィキペディア英語版 |
Weissenbacher–Zweymüller syndrome
Weissenbacher–Zweymuller syndrome (WZS), also called Pierre-Robin syndrome with fetal chondrodysplasia,〔 is an autosomal recessive〔 congenital disorder, linked to mutations (955 gly -> glu) in the ''COL11A2'' gene (located on chromosomal position 6p21.3), which codes for the α2 strand of collagen type XI. It is a collagenopathy, types II and XI disorder.
==Characteristics==
It causes facial abnormalities, skeletal malformation and occasionally neural tube defects; the skeletal disfigurements resolve to a degree in the course of development.
Mutations in different parts of the gene may lead to deafness or Stickler syndrome type III (eye problems: myopia, retinal detachment and skeletal abnormalities).
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「Weissenbacher–Zweymüller syndrome」の詳細全文を読む
スポンサード リンク
| 翻訳と辞書 : 翻訳のためのインターネットリソース |
Copyright(C) kotoba.ne.jp 1997-2016. All Rights Reserved.
|
|