痣样基底细胞癌综合征与夏科-马里-图斯病：在一个家族中分离的两种常染色体显性疾病。
Naevoid basal cell carcinoma syndrome and Charcot-Marie-Tooth disease: two autosomal dominant disorders segregating in a family.
作者信息
Heimler A, Friedman E, Rosenthal A D
出版信息
J Med Genet. 1978 Aug;15(4):288-91. doi: 10.1136/jmg.15.4.288.
Abstract
A family is described in which 16 individuals in 3 generations have Charcot-Marie-Tooth disease. At least 6 family members also have the naevoid basal cell carcinoma syndrome. In addition, 1 subject with both disorders has 2 young daughters with the naevoid basal cell carcinoma syndrome.
摘要
报道了一个家族，该家族三代中的16人患有夏科-马里-图斯病。至少6名家族成员还患有痣样基底细胞癌综合征。此外，一名同时患有这两种疾病的患者有两个患有痣样基底细胞癌综合征的年幼女儿。
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Naevoid basal cell carcinoma syndrome and Charcot-Marie-Tooth disease: two autosomal dominant disorders segregating in a family.痣样基底细胞癌综合征与夏科-马里-图斯病：在一个家族中分离的两种常染色体显性疾病。
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