Pierre-Louis Lanvin, Louis Lebreton, Eulalie Lasseaux, Isabelle Creveaux, Christine Léauté-Labrèze, Franck Boralevi, Fanny Morice-Picard

A novel pathogenic variant in the FZD6 gene causes recessive nail dysplasia in a Moroccan family

  • Dermatology

This report describes a patient with a novel homozygous nonsense variant, nail dysplasia and diabetes. Only a few patients have been described with FZD6 mutations and nail dysplasia, and the spectrum of associated manifestations has not been identified. Indeed, it is questionable whether there is a link between pancreatic involvement and the genetic abnormality identified.

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