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Functional Assessment of TSC2 Variants Identified in Individuals with Tuberous Sclerosis Complex

โœ Scribed by Hoogeveen-Westerveld, Marianne; Ekong, Rosemary; Povey, Sue; Mayer, Karin; Lannoy, Nathalie; Elmslie, Frances; Bebin, Martina; Dies, Kira; Thompson, Catherine; Sparagana, Steven P.; Davies, Peter; van Eeghen, Agnies M.; Thiele, Elizabeth A.; van den Ouweland, Ans; Halley, Dicky; Nellist, Mark

Book ID
118759341
Publisher
John Wiley and Sons
Year
2013
Tongue
English
Weight
162 KB
Volume
34
Category
Article
ISSN
1059-7794

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## Abstract Tuberous sclerosis complex (TSC) is an autosomal dominant multisystem disorder characterized by abnormalities involving the skin, brain, kidney (angiomyolipomas, cysts), and heart. Horseshoe kidney has not been considered to be a common renal manifestation of TSC but it has been previou