Identification of Mutations in SDR9C7 in Three Patients with Autosomal Recessive Congenital Ichthyosis

Acta Derm Venereol. 2020 Feb 5;100(4):5624. doi: 10.2340/00015555-3359.

Authors

Juliette Mazereeuw-Hautier¹, Maella Severino-Freire, Véronique Gaston, Hélène Texier, Marie Vincent, Hélène Aubert, Fanny Morice-Picard, Nathalie Jonca

Affiliation

¹ Dermatology Department, Reference Center for Rare Skin Diseases, CHU Larrey, Université Paul Sabatier, FR-31000 Toulouse, France. [email protected].

No abstract available

Keywords: SDR9C7 mutations; autosomal recessive congenital ichthyosis; ARCI.

Publication types

Case Reports

MeSH terms

Adult
Biopsy
Female
Genes, Recessive
Humans
Ichthyosiform Erythroderma, Congenital / genetics
Male
Mutation, Missense
Oxidoreductases / genetics*
Phenotype

Substances

Oxidoreductases
SDR9C7 protein, human