Ataxia-telangiectasia-like disorder in a family deficient for MRE11A, caused by a MRE11 variant

OBJECTIVE: We report 3 siblings with the characteristic features of ataxia-telangiectasia-like disorder associated with a homozygous MRE11 synonymous variant causing nonsense-mediated mRNA decay (NMD) and MRE11A deficiency. METHODS: Clinical assessments, next-generation sequencing, transcript and im...

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Detalles Bibliográficos
Autores principales: Sedghi, Maryam, Salari, Mehri, Moslemi, Ali-Reza, Kariminejad, Ariana, Davis, Mark, Goullée, Hayley, Olsson, Björn, Laing, Nigel, Tajsharghi, Homa
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Wolters Kluwer 2018
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6283458/
https://www.ncbi.nlm.nih.gov/pubmed/30584599
http://dx.doi.org/10.1212/NXG.0000000000000295

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6283458/
https://www.ncbi.nlm.nih.gov/pubmed/30584599
http://dx.doi.org/10.1212/NXG.0000000000000295

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