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TSC1 and TSC2 mutations in tuberous sclerosis, the associated phenotypes and a model to explain observed TSC1/ TSC2 frequency ratios.
Eur J Pediatr. 2002 Jul;161(7):393-402. doi: 10.1007/s00431-001-0903-7. Epub 2002 Jun 8.
Eur J Pediatr. 2002.
PMID: 12111193
Discordant clinical manifestations in monozygotic twins with the identical mutation in the TSC2 gene.
Martin N, Zügge K, Brandt R, Friebel D, Janssen B, Zimmerhackl LB.
Martin N, et al. Among authors: zugge k.
Clin Genet. 2003 May;63(5):427-30. doi: 10.1034/j.1399-0004.2003.00073.x.
Clin Genet. 2003.
PMID: 12752578
No abstract available.
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