Lentiginosis and café-au-lait macules as part of the phenotypic spectrum of PAX3-related disorders

Clin Exp Dermatol. 2020 Jul;45(5):621-623. doi: 10.1111/ced.14203. Epub 2020 Apr 10.

Authors

F Morice-Picard¹, O Letertre¹, E Lasseaux², M Cario-Andre¹, B Arveiler², A Taieb¹

Affiliations

¹ Department of Dermatology and Pediatric Dermatology, National Reference Centre for Rare Disorders, Centre Hospitalier Universitaire du Bordeaux, Bordeaux, France.
² Department of Medical Genetics, Bordeaux University Hospital, Bordeaux, France.

PMID: 32086958
DOI: 10.1111/ced.14203

No abstract available

Publication types

Case Reports
Letter

MeSH terms

Adult
Cafe-au-Lait Spots / genetics*
Cafe-au-Lait Spots / pathology
Child
Female
Heterozygote
Humans
Lentigo / genetics*
Lentigo / pathology
Male
Mutation*
PAX3 Transcription Factor / genetics*
Phenotype*
Skin / pathology

Substances

PAX3 Transcription Factor
PAX3 protein, human