性连锁点状软骨发育不良？
Sex-linked chondrodysplasia punctata?
作者信息
Happle R, Matthiass H H, Macher E
出版信息
Clin Genet. 1977 Jan;11(1):73-6. doi: 10.1111/j.1399-0004.1977.tb01281.x.
Abstract
Widespread atrophic lesions and pigmentary disturbances of the skin distributed in a linear or whorled pattern, are seen in some patients with chondrodysplasia punctata of the Conradi-Hünermann type. Arguments are presented in favor of the hypothesis that this association of anomalies constitutes a distinct genetic disorder, which is inherited as an X-linked dominant trait lethal in hemizygous males.
摘要
在一些康拉迪-于纳曼型点状软骨发育不良患者中，可见广泛的皮肤萎缩性病变和呈线状或涡状分布的色素沉着紊乱。有人提出论据支持这样一种假说，即这种异常关联构成一种独特的遗传性疾病，以X连锁显性性状遗传，对半合子男性致死。
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