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累及多器官的显性疾病。

Dominant disorders with multiple organ involvement.

作者信息

Kegel M F

出版信息

Dermatol Clin. 1987 Jan;5(1):205-19.

PMID:3549076
Abstract

Diagnosis of the preceding disorders may be difficult because of their wide range of clinical expression. The genetic patterns of incontinentia pigmenti, incontinentia pigmenti achromians, and focal dermal hypoplasia are still unclear, and literature regarding this subject may be confusing. Therefore, it is necessary to observe strict clinical criteria for diagnosis of these syndromes, and genetic counseling of affected individuals and families should be undertaken with care.

摘要

由于上述疾病临床表现范围广泛,其诊断可能会很困难。色素失禁症、色素失禁性色素缺乏症和局灶性真皮发育不全的遗传模式仍不明确,有关该主题的文献可能令人困惑。因此,有必要遵循严格的临床标准来诊断这些综合征,并且应对受影响的个体及其家庭进行谨慎的遗传咨询。

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