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Identification of a PORCN c.1093C>T (p.Arg365Trp) Variant in a 12-Year-Old Girl With Goltz-Gorlin Syndrome. [PDF]
Clin Case RepABSTRACT We 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.
Bolzon A +5 more
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Klinicka Onkologie, 2019 Gorlin-Goltz syndrome is an autosomal dominant inherited disorder characterized by a predisposition to various cancers. Clinicopathological findings of syndrome are very diverse and many symptoms begin to manifest in a certain period of life.The authors describe a case report of a man who, at the age of 34 years, presented to a dermatologist with ...
V, Bartoš +3 more
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Gorlin Goltz Syndrome- A Rare Disease Reported In Bangladesh
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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Frontiers in Oncology, 2020 The nevoid basal cell carcinoma syndrome (NBCCS), also called Gorlin syndrome is an autosomal dominant disorder whose incidence is estimated at about 1 per 55,600–256,000 individuals.
Aurélie Charazac +16 more
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Multi-layered mutation in hedgehog-related genes in Gorlin syndrome may affect the phenotype. [PDF]
PLoS ONE, 2017 Gorlin syndrome is a genetic disorder of autosomal dominant inheritance that predisposes the affected individual to a variety of disorders that are attributed largely to heterozygous germline patched1 (PTCH1) mutations.
Shoko Onodera +9 more
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Orphanet Journal of Rare Diseases, 2015 Meier-Gorlin syndrome (MGS) is a rare autosomal recessive primordial dwarfism disorder, characterized by microtia, patellar applasia/hypoplasia, and a proportionate short stature. Associated clinical features encompass feeding problems, congenital pulmonary emphysema, mammary hypoplasia in females and urogenital anomalies, such as cryptorchidism and ...
de Munnik, Sonja A +7 more
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King Khalid University Journal of Health Sciences, 2016 Gorlin-Goltz syndrome is an autosomal dominant inherited syndrome. It is also known as hereditary cutaneo-mandibular polyonocosis, multiple nevoid basal cell epithelioma-jaw cysts or bifid rib syndrome.
Nasser Alasseri +3 more
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Indian Journal of Pathology and Microbiology, 2011 Nevoid cell carcinoma syndrome or Gorlin-Goltz syndrome is an autosomal dominant disorder characterized by multiple basal cell carcinoma, multiple keratocyst tumors, and skeletal anomalies.
Cláudio M Pereira +4 more
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Actas Dermo-Sifiliográficas (English Edition), 2018 Gorlin syndrome is a rare autosomal dominant disease caused by mutations in the sonic hedgehog signaling pathway. Of particular importance is the PTCH1 gene. The disease is characterized by the development of multiple basal cell carcinomas at young ages.
Palacios-Álvarez, Irene +2 more
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Türk Pediatri Arşivi, 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.
Betül, Şereflican +5 more
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