Tuberous Sclerosis: Diagnosis and Prenatal Diagnosis by MLPA View Full Text


Ontology type: schema:ScholarlyArticle     


Article Info

DATE

2012-10

AUTHORS

T. Padma Priya, Ashwin B. Dalal

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. More... »

PAGES

1366-1369

Identifiers

URI

http://scigraph.springernature.com/pub.10.1007/s12098-011-0408-y

DOI

http://dx.doi.org/10.1007/s12098-011-0408-y

DIMENSIONS

https://app.dimensions.ai/details/publication/pub.1035472986

PUBMED

https://www.ncbi.nlm.nih.gov/pubmed/21541650


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