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Familial basal cell nevus syndrome.

作者信息

Lorenz R, Fuhrmann W

出版信息

Hum Genet. 1978 Oct 31;44(2):153-63. doi: 10.1007/BF00295408.

Abstract

The basal cell nevus syndrome is characterized by multiple basal cell nevi and basal cell carcinoma, cysts of the jaw, anomalies of ribs and spine, abnormal calcifications, and additional anomalies of the facial skull. A German family is described with manifestations of the syndrome in the mother and her three daughters. Expressivity was variable, in part due to age effects. The observation conforms to the assumed autosomal dominant mode of inheritance with high penetrance.

摘要

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