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Tuberous Sclerosis: Diagnosis and Prenatal Diagnosis by MLPA

✍ Scribed by T. Padma Priya, Ashwin B. Dalal


Book ID
118822813
Publisher
Springer-Verlag
Year
2011
Tongue
English
Weight
305 KB
Volume
79
Category
Article
ISSN
0019-5456

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Prenatal sonographic diagnosis of tubero
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## Abstract We report the case of a male fetus with tuberous sclerosis complex (TSC), in whom multiple cardiac rhabdomyomas and renal angiomyolipomas were detected at 33 weeks by ultrasound with additional brain lesions detected on MRI, all confirmed after birth. DNA analysis of the TSC2 gene detec