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Article

Early diagnosis of a newborn with tuberous sclerosis caused by a genetic mutation.

The Journal of international medical research - 1 Aug 2021

Qiao Lin, Yang Yuting, Yue Dongmei

Abstract excerpt

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 sequencing (NGS) and multiple ligation-dependent probe amplification (MLPA) of...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 34433328
DOI: 10.1177/03000605211035895
PMCID: PMC8404652

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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