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-  2017 

Familial progressive hyper- and hypopigmentation: a report on a Chinese family and evidence for genetic heterogeneity

DOI: 10.1590/abd1806-4841.20175567

Keywords: Genetic heterogeneity, Hyperpigmentation, Hypopigmentation, Immunohistochemistry, Mutation

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Abstract:

Familial progressive hyper- and hypopigmentation (FPHH) is a rare genodermatosis that is characterized by diffuse hyper- and hypopigmented spots on the skin and mucous membranes. It is caused by a pathogenic mutation of the KITLG gene

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