De novo mutation in KITLG gene causes a variant of Familial Progressive Hyper‐ and Hypo‐pigmentation (FPHH)

Familial Progressive Hyper‐ and Hypopigmentation is a pigmentary disorder characterized by a mix of hypo‐ and hyperpigmented lesions, café‐au‐lait spots and hypopigmented ash‐leaf macules. The disorder was previously linked to KITLG and various mutations have been reported to segregate in different...

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Detalles Bibliográficos
Autores principales: Gorenjak, Mario, Fijačko, Nino, Bogomir Marko, Pij, Živanović, Milanka, Potočnik, Uroš
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2021
Materias:
Original Articles
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8683634/
https://www.ncbi.nlm.nih.gov/pubmed/34716665
http://dx.doi.org/10.1002/mgg3.1841

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8683634/
https://www.ncbi.nlm.nih.gov/pubmed/34716665
http://dx.doi.org/10.1002/mgg3.1841

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