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

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...

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Bibliographic Details
Main Authors: 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
Format: Article
Language:English
Published: KARE Publishing 2020-12-01
Series:Erciyes Medical Journal
Subjects:
tuberous sclerosis complex
tsc1
tsc2
mtor inhibitor
Online Access:https://jag.journalagent.com/z4/download_fulltext.asp?pdir=erciyesmedj&un=EMJ-49765

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https://jag.journalagent.com/z4/download_fulltext.asp?pdir=erciyesmedj&un=EMJ-49765

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