Familial Progressive Hyperpigmentation, Cutaneous Mastocytosis, and Gastrointestinal Stromal Tumor as Clinical Manifestations of Mutations in the c-KIT Receptor Gene

Author:

Piqueres-Zubiaurre Tatiana1,Martínez de Lagrán Zuriñe1,González-Pérez Ricardo1,Urtaran-Ibarzabal Amaia1,Perez de Nanclares Guiomar2

Affiliation:

1. Service of Dermatology; OSI Araba University Hospital; Vitoria-Gasteiz Alava Spain

2. (Epi)Genetics Laboratory; BioAraba Health Research Institute; OSI Araba University Hospital; Vitoria-Gasteiz Alava Spain

Publisher

Wiley

Subject

Dermatology,Pediatrics, Perinatology, and Child Health

Reference19 articles.

1. Progressive hyperpigmentation and generalized lentiginosis without associated systemic symptoms: a rare hereditary pigmentation disorder in south-east Germany;Zanardo;Acta Derm Venereol,2004

2. Familial progressive hypo- and hyperpigmentation: a variant case;Zhang;Indian J Dermatol Venereol Leprol,2012

3. Familial progressive hyperpigmentation;Chernosky;Arch Dermatol,1971

4. Linkage of a locus determining familial progressive hyperpigmentation (FPH) to chromosome 19p13.1-pter in a Chinese family;Zhang;Eur J Dermatol,2006

5. Gain-of-function mutation of KIT ligand on melanin synthesis causes familial progressive hyperpigmentation;Wang;Am J Hum Genet,2009

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