Article

Identification of a novel mutation in the KITLG gene in a Chinese family with familial progressive hyper- and hypopigmentation

2020-11-17

Abstract excerpt

<title>Abstract</title> <p><bold>Background:</bold> Familial progressive hyper- and hypopigmentation (FPHH, MIM 145250) is a rare hereditary skin disorder that is predominantly characterized by progressive, diffuse, partly blotchy hyperpigmented lesions intermingled with scattered hypopigmented spots, lentigines and sometimes Cafe-au-lait spots (CALs). Heterozygous mutations of the KIT ligand (<italic>KITLG</ital...

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Literature Corpus work: e5dd8143-4c93-546e-8c15-5c07f639117b
DOI: 10.21203/rs.3.rs-28033/v3

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