Genetics of tuberous sclerosis complex: an update
Author:
Publisher
Springer Science and Business Media LLC
Subject
Neurology (clinical),General Medicine,Pediatrics, Perinatology and Child Health
Link
https://link.springer.com/content/pdf/10.1007/s00381-020-04726-z.pdf
Reference23 articles.
1. Peron A, Sing KA, Northrup H (2018) Genetics, genomics, and genotype–phenotype correlations of TSC: insights for clinical practice. Am J Med Genet 178C:281–290
2. Brigo F, Lattanzi S, Trink E, Nardone R, Bragazzi NL, Ruggieri M, Martiniand M, Walusinski O (2018) First descriptions of tuberous sclerosis by Désiré-Magloire Bourneville (1840–1909). Neuropathology 38:577–582
3. Northrup H, Krueger DA, on behalf of the international tuberous sclerosis complex consensus group (2013) Tuberous sclerosis complex diagnostic criteria update: recommendations of the 2012 International Tuberous Sclerosis Complex Consensus Conference. Pediatr Neurol 49:243–254
4. Roach ES, Gomez MR, Northrup H (1998) Tuberous sclerosis complex consensus conference: revised clinical diagnostic criteria. J Child Neurol 13:624–628
5. Krueger DA, Northrup H on behalf of the international tuberous sclerosis complex consensus group (2013) Tuberous sclerosis complex surveillance and management: recommendations of the 2012 International Tuberous Sclerosis Complex Consensus Conference. Pediatr Neurol 49:255–265
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3. Identification of a Novel TSC2 c.170G>A Missense Variant: A Case Report and Elaboration on the Yield of Targeted Options against Tuberous Sclerosis Complex Manifestations;Reviews on Recent Clinical Trials;2023-11
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