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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
Dental Research Journal, 2012 Gorlin-Goltz syndrome is an uncommon autosomal dominant inherited disorder, which is characterized by multiple odontogenic Keratocysts and basal cell carcinomas, skeletal, dental, ophthalmic, and neurological abnormalities, intracranial ectopic ...
Priya Shirish Joshi +2 more
doaj +8 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
Journal of Indian Academy of Oral Medicine and Radiology, 2010 Gorlin-Goltz syndrome, also known as basal cell nevus syndrome, is an uncommon autosomal dominant inherited disorder characterized by numerous basal cell carcinomas, odontogenic keratocysts, and musculoskeletal malformation. It is occasionally associated
M K Sunil +3 more
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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
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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
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
Journal of Indian Academy of Oral Medicine and Radiology, 2011 Gorlin-Goltz syndrome also known as nevoid basal cell carcinoma syndrome (NBCCS) is an infrequent multisystemic disease inherited in a dominant autosomal way, which shows a high level of penetrance and variable expressiveness.
B V Shobha +5 more
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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
Turk Pediatri Ars, 2017 Gorlin-Goltz syndrome is a rare multisystemic disease inherited in an autosomal dominant pattern. It is characterized by numerous basal cell carcinoma of the skin, jaw cysts, and skeletal anomalies such as frontal bossing, vertebral anomalies, palmoplantar pits, and falx cerebri calcification.
Şereflican B +5 more
europepmc +4 more sources