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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.

DOI:10.1136/jmg.15.4.288
PMID:712760
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC1013699/
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。

相似文献

1
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。
J Med Genet. 1978 Aug;15(4):288-91. doi: 10.1136/jmg.15.4.288.
2
Familial jaw cysts in Charcot-Marie-Tooth disease.夏科-马里-图思病中的家族性颌骨囊肿
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Charcot-Marie-Tooth disease with sensorineural hearing loss--an autosomal dominant trait.
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Arch Dermatol. 1980 Jul;116(7):789-90.
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Variation of phenotype in Charcot-Marie-Tooth disease.
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引用本文的文献

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Charcot Marie Tooth disease (CMT): historical perspectives and evolution.夏科-马里-图什病（CMT）：历史透视与演变。
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Molecular genetics of X-linked Charcot-Marie-Tooth disease.X连锁型夏科-马里-图斯病的分子遗传学
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Functional alterations in gap junction channels formed by mutant forms of connexin 32: evidence for loss of function as a pathogenic mechanism in the X-linked form of Charcot-Marie-Tooth disease.由连接蛋白32突变形式形成的缝隙连接通道的功能改变：功能丧失作为X连锁型夏科-马里-图斯病致病机制的证据。
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Chromosomal radiosensitivity during the G2 cell-cycle period of skin fibroblasts from individuals with familial cancer.家族性癌症患者皮肤成纤维细胞G2细胞周期阶段的染色体放射敏感性
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Genetic linkage studies in hereditary motor and sensory neuropathies.遗传性运动和感觉神经病的基因连锁研究。
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The incidence of Gorlin syndrome in 173 consecutive cases of medulloblastoma.173例连续髓母细胞瘤患者中戈林综合征的发病率。
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本文引用的文献

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MULTIPLE BASAL-CELL NEVI SYNDROME. AN ANALYSIS OF A SYNDROME CONSISTING OF MULTIPLE NEVOID BASAL-CELL CARCINOMA, JAW CYSTS, SKELETAL ANOMALIES, MEDULLOBLASTOMA, AND HYPORESPONSIVENESS TO PARATHORMONE.多发性基底细胞痣综合征。一种由多发性痣样基底细胞癌、颌骨囊肿、骨骼异常、髓母细胞瘤和对甲状旁腺素低反应性组成的综合征的分析。
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Familial jaw cysts in Charcot-Marie-Tooth disease.夏科-马里-图思病中的家族性颌骨囊肿
J Med Genet. 1969 Jun;6(2):193-5. doi: 10.1136/jmg.6.2.193.
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Linkage analysis of the nevoid basal cell carcinoma syndrome.
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Genetic and clinical aspects of Charcot-Marie-Tooth's disease.夏科-马里-图思病的遗传学与临床特征
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Genetic and environmental interactions.遗传与环境的相互作用。
Cancer. 1977 Oct;40(4 Suppl):1861-6. doi: 10.1002/1097-0142(197710)40:4+<1861::aid-cncr2820400815>3.0.co;2-9.