Phenotypic variability in patients with unique double homozygous mutations causing variant ataxia telangiectasia-Reference-Cited by-同舟云学术

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Phenotypic variability in patients with unique double homozygous mutations causing variant ataxia telangiectasia

Published:2021-05 Issue: Volume:32 Page:36-39
ISSN:1090-3798
Container-title:European Journal of Paediatric Neurology
language:en
Short-container-title:European Journal of Paediatric Neurology

Author:

Bistritzer Jacob^ORCID,Mijalovsky Analia,Nissenkorn Andreea,Flusser Hagit,Levy Jacov,Nahum Amit,Broides Arnon

Publisher

Elsevier BV

Subject

Neurology (clinical),General Medicine,Pediatrics, Perinatology and Child Health

Reference13 articles.

1. A single ataxia telangiectasia gene with a product similar to PI-3 kinase;Savitsky;Science,1995

2. Ataxia-telangiectasia. 1999 mar 19 [updated 2016 oct 27];Gatti,1993

3. A late onset variant of ataxia-telangiectasia with a compound heterozygous genotype, A8030G/7481insA;Saviozzi;J. Med. Genet.,2002

4. Clinical spectrum of ataxia-telangiectasia in adulthood;Verhagen;Neurology,2009

5. Variant ataxia-telangiectasia presenting as primary-appearing dystonia in Canadian Mennonites;Saunders-Pullman;Neurology,2012

Cited by 2 articles. 订阅此论文施引文献订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献

1. The natural history of ataxia-telangiectasia (A-T): A systematic review;PLOS ONE;2022-03-15

2. RNA sequencing combining with whole exome sequencing reveals a compound heterozygous variant in ATM in a girl with atypical ataxia-telangiectasia;Clinica Chimica Acta;2021-12

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