Male Goltz Syndrome due to Postzygotic PORCN Mosaicism: A Case Report [PDF]
Case Reports in Dermatological MedicineGoltz syndrome, also known as focal dermal hypoplasia (FDH), is a rare X-linked dominant genetic disorder caused by loss-of-function mutations in the PORCN gene, which is crucial for Wnt protein secretion and signaling during embryonic development.
Vu Anh Dao Tran +8 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: 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
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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
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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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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
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Clinical Case Reports, 2018 Key Clinical Message Here, we report a novel mosaic mutation in the PORCN gene in a male Goltz syndrome patient. We also compare the phenotypes of all reported males with a confirmed molecular diagnosis.
Sofia Frisk +7 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
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Treatment of a case with short stature and Goltz syndrome with long-acting growth hormone: a case report and follow-up [PDF]
BMC PediatricsGoltz syndrome, also known as focal dermal hypoplasia, is an X-linked dominant genetic disorder caused by mutations in the PORCN gene, mainly characterized by developmental impairments affecting the skin, hair, bones, teeth, and eyes.
Jinghui Zhang, Nana Qiao, Xiaochun Li
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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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