Weissenbacher–Zweymüller syndrome
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Weissenbacher–Zweymuller syndrome (WZS), also called Pierre-Robin syndrome with fetal chondrodysplasia,[1] is an autosomal recessive[2] 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.[1][2] It is a collagenopathy, types II and XI disorder. The condition was first characterized in 1964 by G. Weissenbacher and Ernst Zweymüller.[3][4]
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Weissenbacher–Zweymüller syndrome | |
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Autosomal recessive inheritance | |
Specialty | Medical genetics |
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