Neuroimaging in tuberous sclerosis complex
Author:
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/s00381-020-04705-4.pdf
Reference66 articles.
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2. Ebrahimi-fakhari D, Mann LL, Poryo M, Graf N, Von Kries R, Heinrich B et al (2019) Correction to: incidence of tuberous sclerosis and age at first diagnosis: new data and emerging trends from a national, prospective surveillance study. Orphanet J Rare Dis 14(106):106
3. Sancak O, Nellist M, Goedbloed M, Elfferich P, Wouters C, Maat-kievit A et al (2005) Mutational analysis of the TSC1 and TSC2 genes in a diagnostic setting: genotype–phenotype correlations and comparison of diagnostic DNA techniques in tuberous sclerosis complex. Eur J Hum Genet 13:731–741
4. Qin W, Kozlowski P, Taillon BE, Bouffard P, Holmes AJ, Janne P, Camposano S, Thiele E, Franz D, Kwiatkowski DJ (2010) Ultra deep sequencing detects a low rate of mosaic mutations in tuberous sclerosis complex. Hum Genet 127(5):573–582
5. Tyburczy ME, Dies KA, Glass J, Camposano S, Chekaluk Y, Thorner AR et al (2015) Mosaic and intronic mutations in TSC1/TSC2 explain the majority of TSC patients with no mutation identified by conventional testing. PLoS Genet 5(Nov):e1–e17
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