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01-10-2012 | Clinical Brief

Tuberous Sclerosis: Diagnosis and Prenatal Diagnosis by MLPA

Authors: T. Padma Priya, Ashwin B. Dalal

Published in: Indian Journal of Pediatrics | Issue 10/2012

Abstract

Tuberous sclerosis complex (TSC) is an autosomal dominant disorder, caused due to mutations in the TSC1 and TSC2 genes. Mutations in TSC2 gene are more common than in TSC1 gene and mostly they are in the form of large genomic deletions or duplications. The authors report on a novel deletion in TSC2 gene, prenatal diagnosis and genetic counseling in a family with a 3- year- old affected male child. This is the first report on MLPA based mutation analysis of TSC1 and TSC2 genes from India.

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Title: Tuberous Sclerosis: Diagnosis and Prenatal Diagnosis by MLPA
Authors: T. Padma Priya
Ashwin B. Dalal
Publication date: 01-10-2012
Publisher: Springer-Verlag
Published in: Indian Journal of Pediatrics / Issue 10/2012
Print ISSN: 0019-5456
Electronic ISSN: 0973-7693
DOI: https://doi.org/10.1007/s12098-011-0408-y

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Tuberous Sclerosis: Diagnosis and Prenatal Diagnosis by MLPA

Abstract

Keynote webinar | Spotlight on medication adherence

Springer Medicine

Abstract

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