{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,18]],"date-time":"2026-10-18T03:18:09Z","timestamp":1792293489608,"version":"4.4.0"},"reference-count":28,"publisher":"Ovid Technologies (Wolters Kluwer Health)","issue":"2","license":[{"start":{"date-parts":[[2026,2,27]],"date-time":"2026-02-27T00:00:00Z","timestamp":1772150400000},"content-version":"unspecified","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by-nc-nd\/4.0"}],"content-domain":{"domain":["lww.com","ovid.com"],"crossmark-restriction":true},"short-container-title":[],"published-print":{"date-parts":[[2026,3]]},"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:p>Gorlin-Goltz syndrome, also called Basal cell nevus syndrome (BCNS), Nevoid basal cell carcinoma syndrome (NBCCS), or Basal nevus cell carcinoma syndrome (BNCCS) is a rare, inherited, autosomal dominant genodermatoses, with variable expression and complete penetrance, characterized by the occurrence of multiple basal cell carcinomas (BCCs) at a young age, palmoplantar pits, keratocystic odontogenic tumors, intracranial ectopic calcifications, facial dysmorphism, and ocular and skeletal anomalies. It occurs due to a defective hedgehog cell signaling pathway, caused by heterozygous germ-line mutations in either Patched 1 (PTCH1), Suppressor of fused (SUFU), Smoothened (SMO), or Patched 2 (PTCH2) genes, leading to tumorigenesis and various developmental anomalies. Because of variable phenotypic expression, the syndrome is difficult to diagnose and is often diagnosed late, increasing the risk of morbidity and rarely mortality in the patients. The gene mutated also determines the phenotypic expression of the syndrome. Detection of the gene mutated plays an important role in, antenatal diagnosis, confirming the diagnosis when in doubt clinically and predictive diagnosis in family members of the affected individuals, which helps us to diagnose the syndrome early, hence screen for various clinical manifestations at the appropriate age according to the gene that is mutated and initiate early treatment to reduce morbidity and mortality.<\/jats:p>","DOI":"10.4103\/ijd.ijd_1165_23","type":"journal-article","created":{"date-parts":[[2026,1,9]],"date-time":"2026-01-09T14:02:29Z","timestamp":1767967349000},"page":"87-93","update-policy":"https:\/\/doi.org\/10.1097\/lww.0000000000001000","source":"Crossref","is-referenced-by-count":1,"title":["Genetic Insight into Gorlin\u2013Goltz Syndrome"],"prefix":"10.4103","volume":"71","author":[{"given":"M","family":"Madhu","sequence":"first","affiliation":[{"name":"From the Department of Dermatology, SSIMS and RC, Davangere, Karnataka, India"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"276","published-online":{"date-parts":[[2026,2,27]]},"reference":[{"key":"R2-20260227","doi-asserted-by":"crossref","first-page":"530","DOI":"10.1136\/jmedgenet-2017-104669","article-title":"First evidence of genotype-phenotype correlations in Gorlin syndrome","volume":"54","author":"Evans","year":"2017","journal-title":"J Med Genet"},{"key":"R3-20260227","doi-asserted-by":"crossref","first-page":"104","DOI":"10.1016\/j.gene.2016.01.012","article-title":"Skeletal stigmata as keys to access to the composite and ancient Gorlin-Goltz syndrome history: The Egypt, Pompeii and Herculaneum lessons","volume":"589","author":"Ponti","year":"2016","journal-title":"Gene"},{"key":"R4-20260227","doi-asserted-by":"crossref","first-page":"908","DOI":"10.1056\/NEJM196005052621803","article-title":"Multiple nevoid basal-cell epithelioma, jaw cysts and bifid rib. 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