Clinical and Molecular Spectrum of Tuberous Sclerosis Complex Patients: Identification of Three Novel Mutations
Makaleler > Tam Makale · 2021
Yazarlar: Esra IŞIK, Hüseyin Onay, Tahir ATİK, Aslı ECE SOLMAZ, Demet TEREK, SARENUR GÖKBEN, Hasan TEKGÜL, Reşit Ertürk LEVENT, Mehmet KANTAR, NİLGÜN KÜLTÜRSAY, Muhsin Özgür ÇOĞULU, Feriştah Ferda ÖZKINAY
ERCIYES MEDICAL JOURNAL, SCI Expanded İndekslerine Giren Dergi, Uluslararası, TR Dizin (Ulakbim), 2021, cilt 43, ss 54-60
Özet
Objective: Tuberous sclerosis complex (TSC) is an autosomal dominant neurocutaneous syndrome. TSC arises from mutations in either TSC1, at 9q34, or TSC2, at 16p13.3. Skin lesions, such as hypomelanotic macules, facial angiofibromas, shagreen patches, and ungual fibromas, are frequently seen in these patients. The present study aims to investigate clinical manifestations, molecular findings and phenotype-genotype correlations in 17 patients with TSC.