X-linked hypohidrotic ectodermal dysplasia: clinical and molecular genetic analysis of a large Russian family with a synonymous p.Ser267= (c.801A>G) splice site mutation

J Eur Acad Dermatol Venereol. 2019 Dec;33(12):e468-e470. doi: 10.1111/jdv.15798. Epub 2019 Jul 30.

Authors

T B Milovidova¹, O A Schagina¹, M V Freire¹, N A Demina¹, A Y Filatova¹, M Y Skoblov¹, A A Stepanova¹, A L Chuhrova¹, A V Polyakov¹

Affiliation

¹ Federal State Budgetary Scientific Institution "Research Centre for Medical Genetics", Moscow, Russia.

PMID: 31306530
DOI: 10.1111/jdv.15798

No abstract available

Publication types

Letter

MeSH terms

Ectodermal Dysplasia 1, Anhidrotic / genetics*
Female
Humans
Male
Mutation*
Pedigree
RNA Splicing*
Russia