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Prenatal diagnosis of tuberous sclerosis and analysis using magnetic resonance spectroscopy

✍ Scribed by M. Sanz-Cortes; J. M. Martinez; M. Bennasar; B. Puerto; E. Gratacos

Book ID
112229643
Publisher
John Wiley and Sons
Year
2010
Tongue
English
Weight
146 KB
Volume
36
Category
Article
ISSN
0960-7692

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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