Leukocytes containing lipid inclusions in congenital ichthyosis without classical Chanarin-Dorfman mutations.

Mallet, Stéphanie; Frankel, Diane; Jonca, Nathalie; Cano, Aline; Roll, Patrice; Kaspi, Elise

Mallet, Stéphanie; Frankel, Diane; Jonca, Nathalie; Cano, Aline; Roll, Patrice; Kaspi, Elise.

Afiliação

Mallet S; Aix Marseille Univ, APHM, Department of Dermatology, La Timone Hospital, Marseille, France.
Frankel D; Aix Marseille Univ, APHM, INSERM, MMG, La Timone Hospital, Cell Biology Department, Marseille, France.
Jonca N; Toulouse Institute for Infectious and Inflammatory Diseases (Infinity), University of Toulouse, French National Center for Scientific Research (CNRS), French National Institute of Health and Medical Research (INSERM), University Paul Sabatier, Toulouse, France.
Cano A; Department of Cell Biology and Cytology, Federative Institute of Biology, Purpan University Hospital, Toulouse, France.
Roll P; APHM, Paediatric Neurology, Reference Center for Inherited Metabolic Diseases, CHU La Timone Enfants, Marseille, France.
Kaspi E; Aix Marseille Univ, APHM, INSERM, MMG, La Timone Hospital, Cell Biology Department, Marseille, France.

Int J Dermatol ; 2024 Apr 05.

Article em En | MEDLINE | ID: mdl-38581117

Palavras-chave

ALOX12B mutation; ChanarinDorfman syndrome (CDS); autosomal recessive congenital ichthyosis (ARCI); congenital ichthyosis; lipid inclusions

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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Idioma: En Revista: Int J Dermatol Ano de publicação: 2024 Tipo de documento: Article País de afiliação: França

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