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词汇 Focal dermal hypoplasia
分类 英语词汇 英语翻译词典
释义

Focal dermal hypoplasia

英语百科

Focal dermal hypoplasia

The molecular Location of the PORCN gene on the X chromosome: base pairs 48,367,346 to 48,379,201

Focal dermal hypoplasia (also known as "Goltz syndrome") is a form of ectodermal dysplasia. It is a multisystem disorder characterized primarily by skin manifestations to the atrophic and hypoplastic areas of skin which are present at birth. These defects manifest as yellow-pink bumps on the skin and pigmentation changes. The disorder is also associated with shortness of stature and some evidence suggests that it can cause epilepsy.

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