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色素失禁症。一项四代人的研究。

Incontinentia pigmenti. A four-generation study.

作者信息

Wiklund D A, Weston W L

出版信息

Arch Dermatol. 1980 Jun;116(6):701-3.

PMID:7377807
Abstract

Seven individual members with incontinentia pigmenti are described from a family spanning four generations. The natural history of the cutaneous, ocular, hair, and dental anomalies is described for each involved member. In addition, a previously undescribed ectodermal defect, woolly-hair nevus, appeared in several affected members of this family. Evidence is offered to support the theory that the pattern of inheritance of incontinentia pigmenti is by linkage of the gene on the X chromosome acting as a dominant gene in females and lethal in males.

摘要

本文描述了一个四代家族中的七名色素失禁症患者。对每位患者的皮肤、眼睛、毛发和牙齿异常的自然病史进行了描述。此外,该家族的几名患者还出现了一种以前未描述过的外胚层缺陷——羊毛状毛发痣。有证据支持色素失禁症的遗传模式是由X染色体上的基因连锁引起的,该基因在女性中起显性作用,在男性中则是致死性的这一理论。

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