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Article

A novel XPA splice-site mutation identified in a 4-year-old Filipino girl with xeroderma pigmentosum.

The Australasian journal of dermatology - 1 May 2023

Reyes Haider H, Lin Yu-Chen, Hsu Chao-Kai, Guevara Bryan Edgar K

Abstract excerpt

We herein report a case of a 4-year-old Filipino girl initially seen through online consultation from a general physician. She was born to a 22-year-old primigravid mother, with no birth complications nor a history of consanguinity in the family. During the 1st month of life, she developed hyperpigmented macules over the face, neck, upper back, and limbs, which were exacerbated by sun exposure. At 2 years old,...

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PMID: 36866916
DOI: 10.1111/ajd.14015

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