Detection of maternal transmission of a splicing mutation in the TSC2 gene following prenatal diagnosis of fetal cardiac rhabdomyomas mimicking congenital cystic adenomatoid malformation of the lung and cerebral tubers and awareness of a family history of maternal epilepsy
Objective: To present a prenatal diagnosis of familial tuberous sclerosis complex (TSC). Case Report: A 29-year-old woman was referred to our institution for amniocentesis at 24 weeks of gestation because of congenital anomaly. The fetus had been found to have an intrathoracic echogenic mass, suspic...
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Elsevier,
2013-09-01T00:00:00Z.
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Internet
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A1234.567 |
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