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Article

Molecular diagnosis of tuberous sclerosis complex in fetuses and infants: an institutional case series.

Journal of clinical pathology - 20 Oct 2024

Bolshakova Anna S, Maslennikov Dmitry N, Shubina Jekaterina, Bystritskiy Andrey A, Tolmacheva Ekaterina R, Mukosey Irina S, Kochetkova Taisiya O, Vasiliev Grigory S, Atapina Ekaterina E, Sadelov Igor O, Zaretskaya Nadezhda V, Barkov Ilya Yu, Degtyarev Dmitry N, Trofimov Dmitry Yu

Abstract excerpt

OBJECTIVE: We describe the clinical and genetic characteristics of fetuses and infants diagnosed with tuberous sclerosis complex (TSC) in our centre, prenatally or neonatally, for a better understanding of the benefits of early screening. METHODS: In this retrospective study, we analysed the data on one fetus and nine infants with a definitive TSC diagnosis by genetic criteria (five patients carrying TSC1...

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PMID: 37536923
DOI: 10.1136/jcp-2023-208935

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