Literature DB >> 12752578

Discordant clinical manifestations in monozygotic twins with the identical mutation in the TSC2 gene.

N Martin, K Zügge, R Brandt, D Friebel, B Janssen, L B Zimmerhackl.   

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Year:  2003        PMID： 12752578     DOI： 10.1034/j.1399-0004.2003.00073.x

Source DB:  PubMed          Journal:  Clin Genet        ISSN： 0009-9163            Impact factor:   4.438


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  2 in total

Review 1.  Where genotype is not predictive of phenotype: towards an understanding of the molecular basis of reduced penetrance in human inherited disease.

Authors:  David N Cooper; Michael Krawczak; Constantin Polychronakos; Chris Tyler-Smith; Hildegard Kehrer-Sawatzki
Journal:  Hum Genet       Date:  2013-07-03       Impact factor: 4.132

2.  A novel TSC2 missense variant associated with a variable phenotype of tuberous sclerosis complex: case report of a Chinese family.

Authors:  Feng Wang; Shiyi Xiong; Lin Wu; Maya Chopra; Xihong Hu; Bingbing Wu
Journal:  BMC Med Genet       Date:  2018-05-30       Impact factor: 2.103
  2 in total

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