Early diagnosis of a newborn with tuberous sclerosis caused by a genetic mutation
Early diagnosis of a newborn with tuberous sclerosis caused by a genetic mutation
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Author / Creator
Publisher
London, England: SAGE Publications
Journal title
Language
English
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Publisher
London, England: SAGE Publications
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Scope and Contents
Contents
Objective
Tuberous sclerosis (TSC) is an autosomal dominant disorder, often detected during childhood. We present the results of genetic testing in a newborn with suspected TSC.
Methods
A newborn with no specific clinical manifestations of TSC showed evidence of TSC on magnetic resonance imaging and echocardiography. Next-generation sequen...
Alternative Titles
Full title
Early diagnosis of a newborn with tuberous sclerosis caused by a genetic mutation
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Record Identifier
TN_cdi_doaj_primary_oai_doaj_org_article_0245cbce80c64a609891a4ee6d7f0b4c
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_doaj_primary_oai_doaj_org_article_0245cbce80c64a609891a4ee6d7f0b4c
Other Identifiers
ISSN
0300-0605
E-ISSN
1473-2300
DOI
10.1177/03000605211035895
