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...

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Bibliografiske detaljer
Udgivet i:J Multidiscip Healthc
Main Authors: 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
Format: Artigo
Sprog:Inglês
Udgivet: Dove 2021
Fag:
Review
Online adgang:https://ncbi.nlm.nih.gov/pmc/articles/PMC8253936/
https://ncbi.nlm.nih.gov/pubmed/34234451
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.2147/JMDH.S295486
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