Identification of a PORCN c.1093C>T (p.Arg365Trp) Variant in a 12‐Year‐Old Girl With Goltz–Gorlin Syndrome [PDF]
Clinical Case ReportsWe report the first female case of Goltz–Gorlin syndrome with the PORCN c.1093C>T (p.Arg365Trp) variant, previously described only in a male with Klinefelter syndrome. This case expands the known phenotypic and genotypic spectrum of FDH.
Anna Bolzon +5 more
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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
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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
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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
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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
Nevoid basal cell carcinoma syndrome (Gorlin syndrome): a case report [PDF]
Journal of Medical Case ReportsBackground Basal cell nevus syndrome, also known as Gorlin or Gorlin–Goltz syndrome, is a hereditary condition caused by mutation in the PATCHED gene.
Noura Abdul Rahman +4 more
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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
Gorlin–Goltz syndrome and epilepsy: A two-case report and review of the literature
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 +1 more source