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

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 a...

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Detalles Bibliográficos
Autores principales: Qiao, Lin, Yang, Yuting, Yue, Dongmei
Formato: Online Artículo Texto
Lenguaje:English
Publicado: SAGE Publications 2021
Materias:
Retrospective Clinical Research Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8404652/
https://www.ncbi.nlm.nih.gov/pubmed/34433328
http://dx.doi.org/10.1177/03000605211035895

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8404652/
https://www.ncbi.nlm.nih.gov/pubmed/34433328
http://dx.doi.org/10.1177/03000605211035895

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