A Novel X-Linked Disorder of Immune Deficiency and Hypohidrotic Ectodermal Dysplasia Is Allelic to Incontinentia Pigmenti and Due to Mutations in IKK-gamma (NEMO)

Hypohidrotic ectodermal dysplasia (HED), a congenital disorder of teeth, hair, and eccrine sweat glands, is usually inherited as an X-linked recessive trait, although rarer autosomal dominant and recessive forms exist. We have studied males from four families with HED and immunodeficiency (HED-ID),...

ver descrição completa

Na minha lista:
Detalhes bibliográficos
Main Authors: Zonana, Jonathan, Elder, Melissa E., Schneider, Lynda C., Orlow, Seth J., Moss, Celia, Golabi, Mahin, Shapira, Stuart K., Farndon, Peter A., Wara, Diane W., Emmal, Stephanie A., Ferguson, Betsy M.
Formato: Artigo
Idioma:Inglês
Publicado em: The American Society of Human Genetics 2000
Assuntos:
Report
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC1287930/
https://ncbi.nlm.nih.gov/pubmed/11047757
Tags: Adicionar Tag
Sem tags, seja o primeiro a adicionar uma tag!

Registos relacionados