Congenital medulloblastoma in two brothers with SUFU-mutated Gorlin-Goltz syndrome: Case reports and literature review [PDF]
Frontiers in Oncology, 2022 BackgroundCongenital medulloblastoma is very rare, and many cases involve germline mutations that can lead to inherited syndromes. Here, we first report two brothers with congenital medulloblastoma who were diagnosed with Gorlin-Goltz syndrome caused by ...
Yufan Chen +3 more
doaj +4 more sources
Gorlin Goltz Syndrome- A Rare Disease Reported In Bangladesh [PDF]
Update Dental College Journal, 2022 Gorlin-Goltz syndrome is an infrequent multisystemic disease with an autosomal dominant trait with complete penetrance and various expressivity. Gorlin Goltz Syndrome is a rare autosomal characterized by an increased predisposition to basal cell ...
Nafisa Afroze +3 more
doaj +2 more sources
A Rare Case of Gorlin-Goltz Syndrome in Children [PDF]
Case Reports in Dentistry, 2019 The Gorlin-Goltz syndrome, nevoid basal cell carcinoma syndrome, or basal cell nevus syndrome is an autosomal dominant condition disorder with high variability expression.
Fernanda Brasil Daura Jorge Boos Lima +6 more
doaj +3 more sources
Gorlin–Goltz Syndrome: A Case Report and Literature Review with PTCH1 Gene Sequencing [PDF]
Archives of Plastic Surgery, 2023 Gorlin–Goltz syndrome, also known as nevoid basal cell carcinoma syndrome, is an autosomal dominant disease characterized by multisystemic developmental defects caused by pathogenic variants such as patched-1 (PTCH1) gene variants and/or SUFU gene ...
Hyo Seong Kim +4 more
doaj +2 more sources
Gorlin-Goltz syndrome from diagnosis to treatment: Role of the dentist
Advances in Oral and Maxillofacial Surgery, 2023 Gorlin-Goltz syndrome encompasses a variety of clinical signs and symptoms, including significant oral manifestations of which dentists should be aware. Given the risk of malignancy, it is important to be aware of this syndrome and recognize the need for
Basma Zaher +2 more
doaj +3 more sources
Gorlin–Goltz syndrome and epilepsy: A two-case report and review of the literature [PDF]
Epilepsy & Behavior Reports, 2020 Gorlin–Goltz syndrome, also known as nevoid basal cell carcinoma syndrome, is a genetic disorder with several neurological, cutaneous and skeletal manifestations. Epilepsy has been previously reported as a finding in Gorlin–Goltz syndrome but remains ill-
Daniel Tomasso +2 more
doaj +2 more sources
Prenatal detection of Gorlin–Goltz syndrome: a case report and focused review of the literature [PDF]
Frontiers in MedicineIntroductionGorlin–Goltz syndrome is a rare tumor-predisposing condition caused by genetic variants in the PTCH1 and SUFU pathways. The list of genetic variants associated with Gorlin–Goltz syndrome is not yet exhaustive.
Kathrin Oelmeier +7 more
doaj +2 more sources
Keratocystic odontogenic tumors related to Gorlin–Goltz syndrome: A clinicopathological study
Journal of Oral Biology and Craniofacial Research, 2016 Background: Assess clinicopathological features of patients with keratocystic odontogenic tumor (KCOT) associated with Gorlin–Goltz syndrome in our institution from 2004 to 2015.
Mohammed Israr Ul Khaliq +6 more
doaj +3 more sources
Case Report: PTCH1 splice-site mutation and sonidegib treatment in Gorlin-Goltz syndrome: clinical insights from a family case study [PDF]
Frontiers in MedicineGorlin-Goltz syndrome (nevoid basal cell carcinoma syndrome) is a rare autosomal dominant tumor-predisposition disorder characterized by multiple basal cell carcinomas (BCCs), odontogenic keratocysts of the jaws, and variable systemic manifestations ...
Linli Liu +5 more
doaj +2 more sources
Recurrent Metastatic Basal Cell Carcinomas of the Face in a Patient with Gorlin–Goltz Syndrome [PDF]
Current OncologyGorlin–Goltz syndrome, also known as nevoid basal cell carcinoma syndrome (NBCCS), is a rare, inherited autosomal dominant disorder primarily caused by mutations in the PTCH1 gene, which regulates the Hedgehog signaling pathway. This genetic defect leads
Petko Petrov +5 more
doaj +2 more sources