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Two Novel Gross Deletions of TSC2 in Malaysian Patients with Tuberous Sclerosis Complex and TSC2/PKD1 Contiguous Deletion Syndrome

30 Mar 2014

Abstract excerpt

Tuberous sclerosis complex is an autosomal dominant neurocutaneous disorder affecting multiple organs. Tuberous sclerosis complex is caused by mutation in either one of the two disease-causing genes, TSC1 or TSC2, encoding for hamartin and tuberin, respectively. TSC2/PKD1 contiguous gene deletion syndrome is a very rare condition due to deletion involving both TSC2 and PKD1 genes. Tuberous sclerosis complex...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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PMID: 24683199
DOI: 10.1093/jjco/hyu024

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