Clinical and Molecular Spectrum of Tuberous Sclerosis Complex Patients: Identification of Three Novel Mutations

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...

সম্পূর্ণ বিবরণ

গ্রন্থ-পঞ্জীর বিবরন
প্রধান লেখক: Esra Işık, Hüseyin Onay, Tahir Atık, Aslı Ece Solmaz, Demet Terek, Sarenur Gökben, Hasan Tekgül, Ertürk Levent, Mehmet Kantar, Nilgün Kültürsay, Özgür Çoğulu, Ferda Özkınay
বিন্যাস: প্রবন্ধ
ভাষা:English
প্রকাশিত: KARE Publishing 2020-12-01
মালা:Erciyes Medical Journal
বিষয়গুলি:
অনলাইন ব্যবহার করুন:https://jag.journalagent.com/z4/download_fulltext.asp?pdir=erciyesmedj&un=EMJ-49765