A novel de novo TSC2 nonsense mutation detected in a pediatric patient with tuberous sclerosis complex-Reference-Cited by-同舟云学术

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A novel de novo TSC2 nonsense mutation detected in a pediatric patient with tuberous sclerosis complex

Published:2020-06-12 Issue:1 Volume:37 Page:253-257
ISSN:0256-7040
Container-title:Child's Nervous System
language:en
Short-container-title:Childs Nerv Syst

Author:

Yang Mei-hua,Wang Zhong-ke,Huang Yi,Lv Sheng-qing,Zhang Chun-qing,Zhu Yuan-yuan,Yang Qing-wu,Liu Shi-yong

Funder

National Natural Science Foundation of China

Publisher

Springer Science and Business Media LLC

Subject

Clinical Neurology,General Medicine,Pediatrics, Perinatology, and Child Health

Link

https://link.springer.com/content/pdf/10.1007/s00381-020-04702-7.pdf

Reference16 articles.

1. Krueger DA, Northrup H, Roberds S, Smith K, Sampson J, Korf B, Kwiatkowski DJ, Mowat D, Nellist M, Povey S (2013) Tuberous sclerosis complex surveillance and management: recommendations of the 2012 International Tuberous Sclerosis Complex Consensus Conference. Pediatr Neurol 49:255–265. https://doi.org/10.1016/j.pediatrneurol.2013.08.001

2. Rosset C, Netto CBO, Ashton-Prolla P (2017) TSC1 and TSC2 gene mutations and their implications for treatment in tuberous sclerosis complex: a review. Genet Mol Biol 40:69–79. https://doi.org/10.1590/1678-4685-gmb-2015-0321

3. Hung C-C, Su Y-N, Chien S-C, Liou H-H, Chen C-C, Chen P-C, Hsieh C-J, Chen C-P, Lee W-T, Lin W-L (2006) Molecular and clinical analyses of 84 patients with tuberous sclerosis complex. BMC Med Genet 7:72. https://doi.org/10.1186/1471-2350-7-72

4. Sasongko TH, Ismail NFD, Malik NMANA, Zabidi-Hussin Z (2015) Rapamycin and its analogues (rapalogs) for tuberous sclerosis complex-associated tumors: a systematic review on non-randomized studies using meta-analysis. Orphanet J Rare Dis 10:95. https://doi.org/10.1186/s13023-015-0317-7

5. Li H, Durbin R (2009) Fast and accurate short read alignment with Burrows–Wheeler transform. Bioinformatics 25:1754–1760. https://doi.org/10.1093/bioinformatics/btp324

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