Extensive blaschkoid hypopigmentation in a girl with MED12-related disorder

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

doi:10.1111/pde.15101

Extensive blaschkoid hypopigmentation in a girl with MED12-related disorder

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

Research output: Contribution to journal › Article › peer-review

Abstract

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.

Original language	English
Pages (from-to)	176-178
Number of pages	3
Journal	Pediatric Dermatology
Volume	40
Issue number	1
DOIs	https://doi.org/10.1111/pde.15101
State	Published - Jan 1 2023

Keywords

dermatology
genetic testing
genetics
hypopigmentation
mosaicism

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10.1111/pde.15101

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abstract = "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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KW - mosaicism

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Extensive blaschkoid hypopigmentation in a girl with MED12-related disorder

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Keywords

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