Extensive blaschkoid hypopigmentation in a girl with MED12 ‐related disorder

Cynthia X. Wang, Katherine B. King,Susan J. Bayliss

Pediatric Dermatology（2022）

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摘要

MED12-related disorders represent a spectrum of rare neurodevelopmental disorders causing intellectual disability, dysmorphic features, and other systemic abnormalities. We report a case of a 21-month-old girl with extensive hypopigmentation following Blaschko lines attributed to underlying MED12-related disorder.

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关键词

dermatology, genetic testing, genetics, hypopigmentation, mosaicism

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