Bothnian palmoplantar keratoderma: further delineation of the associated phenotype

HIGHLIGHTS

• who: Laura Fertitta et al. from the Department of Dermatology, Hu00f4pital Necker-Enfants Malades, Centre Universitu00e9 Paris Citu00e9, rue de Su00e8vres, PARIS, , Paris, France have published the research: Bothnian Palmoplantar Keratoderma: Further Delineation of the Associated Phenotype, in the Journal: Genes 2022, 2360 of 14/Dec/2022
• what: The authors report four patients carrying novel AQP5 heterozygous mutation (c.125T>A; p.(Ile42Asn)) and belonging to the same French family. The authors report four and refine the associated phenotype.

SUMMARY

Palmoplantar keratodermas (PPK) represent a diverse group of hereditary and acquired . . .

 



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