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Molecular analysis of TSC2/PKD1 contiguous gene deletion syndrome.

9 Jun 2011

Abstract excerpt

BACKGROUND: Tuberous sclerosis complex (TSC) is an autosomal dominant disorder caused by mutations in either of two genes, TSC1 and TSC2. Autosomal dominant polycystic kidney disease (ADPKD) is caused by mutations in either PKD1 or PKD2. TSC2 lies immediately adjacent to PKD1 and large heterozygous deletions can result in the TSC2/PKD1 contiguous gene syndrome (PKDTS). PKDTS has been identified in patients with...

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PMID: 22169896
DOI: 10.24546/81003101

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Molecular analysis of TSC2/PKD1 contiguous gene deletion syndrome.PMID 22169896Read ↗

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