Evaluating the clinical utility of a long-read sequencing-based approach in genetic testing of fragile-X syndrome-Reference-Cited by-同舟云学术

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Evaluating the clinical utility of a long-read sequencing-based approach in genetic testing of fragile-X syndrome

Published:2023-11 Issue: Volume:551 Page:117614
ISSN:0009-8981
Container-title:Clinica Chimica Acta
language:en
Short-container-title:Clinica Chimica Acta

Author:

Hou Fei,Mao Aiping,Shan Shan,Li Yan,Meng Wanli,Zhan Jiahan,Nie Wenying,Jin Hua

Publisher

Elsevier BV

Subject

Biochemistry (medical),Clinical Biochemistry,Biochemistry,General Medicine

Reference33 articles.

1. Epidemiology of fragile X syndrome: a systematic review and meta-analysis;Hunter;Am. J. Med. Genet. A,2014

2. Fragile X syndrome: An overview and update of the FMR1 gene;Mila;Clin. Genet.,2018

3. Expansion of the fragile X CGG repeat in females with premutation or intermediate alleles;Nolin;Am. J. Hum. Genet.,2003

4. The FMR1 premutation and reproduction;Wittenberger;Fertil. Steril.,2007

5. Female carriers of fragile X premutations have no increased risk for additional diseases other than premature ovarian failure;Hundscheid;Am. J. Med. Genet. A,2003

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