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. © 2022 Wiley Periodicals LLC.
Cynthia X Wang, Katherine B King, Susan J Bayliss. Extensive blaschkoid hypopigmentation in a girl with MED12-related disorder. Pediatric dermatology. 2023 Jan;40(1):176-178
PMID: 36017700
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