Article
Tuberous Sclerosis Complex: Genetic counselling and perinatal follow-up.
Archives de pediatrie : organe officiel de la Societe francaise de pediatrie - 1 Dec 2022
Touraine R, Hauet Q, Harzallah I, Baruteau A-E
Abstract excerpt
Tuberous sclerosis is an autosomal dominant disorder almost fully penetrant with highly variable expression. Most cases are de novo and this diagnosis is sometimes considered during prenatal life in case of cardiac tumor, unique or multiple. The couple should be referred to a specialized tertiary prenatal care center for expertise and information. Fetal molecular testing of the two genes TSC1 and TSC2 is often...
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