具有显性遗传和粘多糖贮积症的克尼斯特综合征
Kniest syndrome with dominant inheritance and mucopolysacchariduria.
作者信息
Kim H J, Beratis N G, Brill P, Raab E, Hirschhorn K, Matalon R
出版信息
Am J Hum Genet. 1975 Nov;27(6):755-64.
Abstract
A mother and daughter with clinical and radiographic findings typical of the Kniest syndrome are reported. It is apparent that this syndrome is dominantly inherited and that sporadic cases may represent fresh mutations. Abnormally high keratan sulfate excretion was found, indicating that the Kniest syndrome is a mucopolysacchariduria.
摘要
报道了一对母女，她们具有典型的克尼斯特综合征的临床和影像学表现。显然，该综合征为显性遗传，散发病例可能代表新的突变。发现硫酸角质素排泄异常增高，表明克尼斯特综合征是一种黏多糖贮积症。
Zotero 插件