SCN10A variants associated with congenital harlequin syndrome

Br J Dermatol. 2022 Jun;186(6):1039-1041. doi: 10.1111/bjd.21011. Epub 2022 Mar 22.

Authors

Aurelie Halle¹, Alix De Becdelievre², Benoit Funalot², Christine Labrèze³, Fanny Morice-Picard³, Franck Boralevi³

Affiliations

¹ Department of Dermatology, Centre Hospitalier Universitaire d'Amiens, Amiens, France.
² Department of Medical Genetics, Henri Mondor University Hospital, AP-HP, INSERM, IMRB, Paris Est Créteil University, Créteil, France.
³ Department of Dermatology and Pediatric Dermatology, National Reference Centre for Rare Disorders, Hôpital des Enfants Pellegrin, Centre Hospitalier Universitaire de Bordeaux, Bordeaux, France.

PMID: 35007332
DOI: 10.1111/bjd.21011

No abstract available

Publication types

Letter

MeSH terms

Autonomic Nervous System Diseases*
Flushing
Genetic Predisposition to Disease
Humans
Hypohidrosis* / diagnosis
Hypohidrosis* / genetics
NAV1.8 Voltage-Gated Sodium Channel / genetics

Substances

NAV1.8 Voltage-Gated Sodium Channel
SCN10A protein, human

Supplementary concepts

Harlequin syndrome