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Updated: Jul 15, 2025

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患有由于ABCA12变异引起的角质化乱的患者,表现出皮病rubra pilaris表型

Takuya Takeichi1, Takahiro Hamada2, Mayuko Yamamoto3

  • 1Department of Dermatology, Nagoya University Graduate School of Medicine, Nagoya, Japan.

The Journal of dermatology
|September 27, 2023
PubMed
概括

在ABCA12的遗传变异可以导致比先天性 ichthyosis. 这项研究确定了与ABCA12变体相关的新表型,扩大了这些遗传性皮肤疾病的已知谱.

关键词:
这是一张ATP结合卡塞特.地理损伤是指地理损伤.

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