Multidisciplinary Management of Ataxia Telangiectasia: Current Perspectives

Ataxia telangiectasia (A-T) is a rare autosomal recessive disease caused by mutations in the ataxia telangiectasia mutated (ATM) gene. In the absence of a family history, the diagnosis of A-T is usually not made until the child is older and symptomatic. Classic A-T is characterized by a constellatio...

Descripción completa

Detalles Bibliográficos
Autores principales: McGrath-Morrow, Sharon A, Rothblum-Oviatt, Cynthia C, Wright, Jennifer, Schlechter, Haley, Lefton-Greif, Maureen A, Natale, Valerie A, Crawford, Thomas O, Lederman, Howard M
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Dove 2021
Materias:
Review
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8253936/
https://www.ncbi.nlm.nih.gov/pubmed/34234451
http://dx.doi.org/10.2147/JMDH.S295486

Ejemplares similares

Ejemplares similares