Non progressive congenital ataxia or early onset slowly progressive ataxia? Identification of novel compound heterozygous variants in MRE11A (ataxia telangiectasia like disorder) in one patient confirms the clinical utility of exome sequencing

Autor:	Thierry Billette de Villemeur, Lydie Burglen, Alice Fievet, Dominique Stoppa Lyonnet, Stéphanie Valence, Diana Rodriguez
Rok vydání:	2017
Předmět:	Ataxia Telangiectasia Like Disorder Pathology medicine.medical_specialty business.industry General Medicine Compound heterozygosity Congenital ataxia Progressive ataxia MRE11A Pediatrics Perinatology and Child Health Medicine Neurology (clinical) business Exome sequencing Early onset
Zdroj:	European Journal of Paediatric Neurology. 21:e57-e58
ISSN:	1090-3798
DOI:	10.1016/j.ejpn.2017.04.912
Databáze:	OpenAIRE
Externí odkaz:	https://explore.openaire.eu/search/publication?articleId=doi_________::32cea40ba0aaf7e8fea0ea53c066ea5b https://doi.org/10.1016/j.ejpn.2017.04.912 Zobrazit plný text záznamu Full Text from ScienceDirect