MOLECULAR DIAGNOSTICS OF TUBEROUS SCLEROSIS


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Abstract

Tuberous sclerosis is a hereditary disease of phakomatoses group, characterized by the development of multiple hamartomas of brain, eyes, skin and visceral organs. Diagnostics of tuberous sclerosis requires identification of pathogenic mutations within TSC1 or TSC2 genes. Here we present a description of clinical case of tuberous sclerosis followed by detection of the causative mutation.

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About the authors

Grigoriy Arkadyevich Yanus

Saint-Petersburg State Pediatric Medical University

Email: octavedoctor@yandex.ru
resident doctor, Department of Medical Genetics

Yevgeniy Nikolayevic Suspitsyn

Saint-Petersburg State Pediatric Medical University

Email: vgeny.suspitsin@gmail.com
MD, PhD, Associate Professor

Marina Yuryevna Dorofeyeva

Moscow Institute of Pediatrics and Pediatric Surgery

Email: mdorofeeva@inbox.ru
MD, PhD, Senior Researcher Department of Psychoneurology and Epileptology

Yevgeniy Naumovich Imyanitov

Saint-Petersburg State Pediatric Medical University

Email: evgeny@imyanitov.spb.ru
PhD, Dr Med Sci, Prof., Head of the Department of Medical Genetics

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Copyright (c) 2013 Yanus G.A., Suspitsyn Y.N., Dorofeyeva M.Y., Imyanitov Y.N.

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