ADAR1 splicing mutation leading to dyschromatosis hereditaria in a Caucasian patient

J Eur Acad Dermatol Venereol. 2018 Feb;32(2):e79-e80. doi: 10.1111/jdv.14530. Epub 2017 Oct 5.

Authors

J Petre¹, E Lasseaux², C Ged^{1

3}, B Arveiler², A Taïeb¹, F Morice-Picard¹

Affiliations

¹ CHU de Bordeaux, Service de Dermatologie, Centre de Référence des Maladies Rares de la Peau Bordeaux, F-33076, France.
² CHU de Bordeaux, Service de Génétique Médicale, Bordeaux, F-33076, France.
³ CHU de Bordeaux, Service de Biochimie, Bordeaux, F-33076, France.

PMID: 28833649
DOI: 10.1111/jdv.14530

No abstract available

Publication types

Case Reports
Letter

MeSH terms

Adenosine Deaminase / genetics*
Adolescent
Humans
Male
Mutation
Pigmentation Disorders / congenital*
Pigmentation Disorders / diagnosis
Pigmentation Disorders / genetics
RNA-Binding Proteins / genetics*

Substances

RNA-Binding Proteins
ADAR protein, human
Adenosine Deaminase

Supplementary concepts

Dyschromatosis symmetrica hereditaria 1