Compound heterozygosity for novel KRT85 variants associated with pure hair and nail ectodermal dysplasia

J Eur Acad Dermatol Venereol. 2019 Dec;33(12):e458-e459. doi: 10.1111/jdv.15777. Epub 2019 Jul 19.

Authors

S Amico¹, C Ged^{1

2

3}, A Taïeb^{1

3}, F Morice-Picard¹

Affiliations

¹ Department of Dermatology, National Reference Center for Rare Skin Disorders, CHU de Bordeaux, Bordeaux, France.
² Department of Biochemistry, CHU de Bordeaux, Bordeaux, France.
³ INSERM, BMGIC, U1035, Bordeaux University, Bordeaux, France.

PMID: 31273852
DOI: 10.1111/jdv.15777

No abstract available

Publication types

Case Reports
Letter

MeSH terms

Adolescent
Adult
Child
Ectodermal Dysplasia / genetics*
Female
Hair / abnormalities*
Heterozygote*
Humans
Keratins, Hair-Specific / genetics*
Keratins, Type II / genetics*
Mutation
Nails, Malformed / genetics*
Pedigree

Substances

KRT85 protein, human
Keratins, Hair-Specific
Keratins, Type II