Tuberous sclerosis: diagnosis and prenatal diagnosis by MLPA.

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.

journal_name

Indian J Pediatr

authors

Padma Priya T,Dalal AB

doi

10.1007/s12098-011-0408-y

subject

Has Abstract

pub_date

2012-10-01 00:00:00

pages

1366-9

issue

10

eissn

0019-5456

issn

0973-7693

journal_volume

79

pub_type

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