Genetic analysis of 18 families with tuberous sclerosis complex
Author:
Publisher
Springer Science and Business Media LLC
Subject
Cellular and Molecular Neuroscience,Genetics (clinical),Genetics
Link
https://link.springer.com/content/pdf/10.1007/s10048-022-00694-5.pdf
Reference34 articles.
1. O’Callaghan FJ, Shiell AW, Osborne JP, Martyn CN (1998) Prevalence of tuberous sclerosis estimated by capture-recapture analysis. Lancet 351:1490. https://doi.org/10.1016/S0140-6736(05)78872-3
2. Sampson JR, Scahill SJ, Stephenson JB, Mann L, Connor JM (1989) Genetic aspects of tuberous sclerosis in the west of Scotland. J Med Genet 26:28–31
3. Leung AK, Robson WL (2007) Tuberous sclerosis complex: a review. J Pediatr Health Care 21:108–114. https://doi.org/10.1016/j.pedhc.2006.05.004
4. Curatolo P, Moavero R, de Vries PJ (2015) Neurological and neuropsychiatric aspects of tuberous sclerosis complex. Lancet Neurol 14:733–745. https://doi.org/10.1016/S1474-4422(15)00069-1
5. Sancak O, Nellist M, Goedbloed M, Elfferich P, Wouters C, Maat-Kievit A, Zonnenberg B, Verhoef S, Halley D, van den Ouweland A (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. https://doi.org/10.1038/sj.ejhg.5201402
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