Identification of a novel heterozygous TSC2 splicing variant in a patient with Tuberous sclerosis complex
Author:
Funder
the Science and Technology Program of Sichuan Province
Publisher
Ovid Technologies (Wolters Kluwer Health)
Subject
General Medicine
Reference15 articles.
1. Tuberous sclerosis complex: review based on new diagnostic criteria;Portocarrero;An Bras Dermatol,2018
2. A systematic review on the burden of illness in individuals with tuberous sclerosis complex (TSC);Zöllner;Orphanet J Rare Dis,2020
3. Minimal mosaicism, maximal phenotype: discordance between clinical and molecular findings in two patients with tuberous sclerosis;Byers;Am J Med Genet C Semin Med Genet,2018
4. Tuberous sclerosis : a review of the past, present and future [published online ahead of print, 2020 Mar 28];Uysal;Turk J Med Sci,2020
5. Tuberous sclerosis complex consensus conference: revised clinical diagnostic criteria;Roach;J Child Neurol,1998
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2. Recognizing Pediatric Tuberous Sclerosis Complex Based on Multi-Contrast MRI and Deep Weighted Fusion Network;Bioengineering;2023-07-22
3. An overview of actionable and potentially actionable TSC1 and TSC2 germline variants in an online Database;Genetics and Molecular Biology;2023
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