نتایج جستجو برای: tuberous sclerosis complex

تعداد نتایج: 844439  

Journal: :Journal of Oral Medicine and Oral Surgery 2019

2012
Seyyed Hassan TONEKABONI Seyyed Hassan Tonekaboni Parviz Tousi Ahmad Ebrahimi Farzad Ahmadabadi Zarrintaj Keyhanidoust Gholamreza Zamani Morteza Rezvani Susan Amirsalari Azita Tavassoli Alireza Rounagh Alireza Rezayi

OBJECTIVE Tuberous sclerosis complex is an autosomal dominant neurocutaneous disease that presents with dermatological, neurological, cardiac, renal and ocular symptoms. We described the variable clinical manifestations, neuroimaging findings, Age and sex distribution of tuberous sclerosis in a group of 81 patients referred to our clinic. MATERIALS & METHODS Based on the diagnostic criteria, ...

2017
Clévia Rosset Filippo Vairo Isabel Cristina Bandeira Rudinei Luis Correia Fernanda Veiga de Goes Raquel Tavares Boy da Silva Larissa Souza Mario Bueno Mireille Caroline Silva de Miranda Gomes Henrique de Campos Reis Galvão João I C F Neri Maria Isabel Achatz Cristina Brinckmann Oliveira Netto Patricia Ashton-Prolla

Tuberous sclerosis complex (TSC) is an autosomal dominant multisystem disorder characterized by the development of multiple hamartomas in many organs and tissues. It occurs due to inactivating mutations in either of the two genes, TSC1 and TSC2, following a second hit in a tumor suppressor gene in most hamartomas. Comprehensive screening for mutations in both the TSC1 and TSC2 loci has been per...

Journal: :European Journal of Paediatric Neurology 2018

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