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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...
| Autores principales: | , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
SAGE Publications
2021
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| Materias: | |
| 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 |