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Article

Bothnian Palmoplantar Keratoderma: Further Delineation of the Associated Phenotype.

Genes - 14 Dec 2022

Fertitta Laura, Charbit-Henrion Fabienne, Leclerc-Mercier Stéphanie, Nguyen-Khoa Thao, Baran Robert, Alby Caroline, Steffann Julie, Sermet-Gaudelus Isabelle, Hadj-Rabia Smail

Abstract excerpt

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 AQP5 heterozygous mutations. We report four patients carrying a novel AQP5 heterozygous mutation (c.125T>A; p.(Ile42Asn)), and belonging to the same French family. Early...

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Identifiers

PMID: 36553627
DOI: 10.3390/genes13122360
PMCID: PMC9777635

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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