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Weissenbacher–Zweymüller syndrome
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Weissenbacher–Zweymüller 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 recessivecongenital 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).

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