A novel variant in ATM gene causes ataxia telangiectasia revealed by whole-exome sequencing

Noufa A. Alonazi; Khalid J. Hundallah; Amal M. Al Hashem; Sarar Mohamed

doi:10.17712/nsj.2018.2.20170463

Article Information

vol. 23 no. 2 162-164

DOI

https://doi.org/10.17712/nsj.2018.2.20170463

PubMed

29664460

Published By

Neurosciences Journal

Online ISSN

1658-3183

History

Received October 9, 2017
Accepted February 7, 2018
Published online November 13, 2020.

Copyright: © Neurosciences Neurosciences is an Open Access journal and articles published are distributed under the terms of the Creative Commons Attribution-NonCommercial License (CC BY-NC). Readers may copy, distribute, and display the work for non-commercial purposes with the proper citation of the original work.

Author Information

Noufa A. Alonazi, MD, MSc ⇑,
Khalid J. Hundallah, MD,
Amal M. Al Hashem, MD and
Sarar Mohamed, MD, FRCPCH

From the Department of Pediatrics (Hundalla, Al Hashem, Mohamed), Prince Sultan Military Medical City, Prince Abdullah bin Khalid Celiac Disease Research Chair (Mohamed), King Saud University, Riyadh, Kingdom of Saudi Arabia

Address correspondence and reprint request to: Dr. Noufa A. Alonazi, Department of Pediatrics, Prince Sultan Military Medical City, Riyadh, Kingdom of Saudi Arabia. E-mail: dralonazi{at}gmail.com ORICID ID: https://orcid.org/0000-0003-4334-720X

View Full Text