Article
Genotype-phenotype analysis of von Hippel-Lindau syndrome in fifteen Indian families.
Familial cancer - 1 Dec 2015
Vikkath Narendranath, Valiyaveedan Sindhu, Nampoothiri Sheela, Radhakrishnan Natasha, Pillai Gopal S, Nair Vasantha, Pooleri Ginil Kumar, Mathew Georgie, Menon Krishnakumar N, Ariyannur Prasanth S, Pillai Ashok B
Abstract excerpt
The general prevalence of the familial multi-organ tumor disorder, von Hippel-Lindau syndrome (VHL), was estimated to be 1 in 25-40,000 in western studies two decades back. Few studies were done in Indian sub-continent, amidst a surge in clinical reports on VHL specific manifestations. The syndrome is correlated with mutations of the gene VHL (located in Chr 3p25.3). We aimed to conduct a prospective case series...
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