Bothnian Palmoplantar Keratoderma: Further Delineation of the Associated Phenotype

Bothnian palmoplantar keratoderma (PPKB, MIM600231) is an autosomal dominant form of diffuse non-epidermolytic PPK characterized by spontaneous yellowish-white PPK associated with a spongy appearance after water-immersion. It is due to heterozygous mutations. We report four patients carrying a novel...

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Veröffentlicht in:	Genes 2022-12, Vol.13 (12), p.2360
Hauptverfasser:	Fertitta, Laura, Charbit-Henrion, Fabienne, Leclerc-Mercier, Stéphanie, Nguyen-Khoa, Thao, Baran, Robert, Alby, Caroline, Steffann, Julie, Sermet-Gaudelus, Isabelle, Hadj-Rabia, Smail
Format:	Artikel
Sprache:	eng
Schlagworte:	Age Aquaporin 5 Biopsy Cystic fibrosis Diagnosis Fingers & toes Genes Genetic aspects Genotype & phenotype Humans Hyperhidrosis Hyperhidrosis - genetics Hypotonicity Immersion Keratoderma, Palmoplantar - genetics Keratodermas Mutation Palmoplantar keratoderma Patients Phenotype Phenotypes Pruritus Skin Sweat gland Water
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