{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,12,15]],"date-time":"2025-12-15T19:30:05Z","timestamp":1765827005195},"reference-count":11,"publisher":"Scientific Scholar","issue":"01","license":[{"start":{"date-parts":[[2019,9,26]],"date-time":"2019-09-26T00:00:00Z","timestamp":1569456000000},"content-version":"vor","delay-in-days":2825,"URL":"https:\/\/creativecommons.org\/licenses\/by-nc-nd\/4.0\/"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Journal of Neurosciences in Rural Practice"],"published-print":{"date-parts":[[2012,1]]},"abstract":"<jats:title>ABSTRACT<\/jats:title><jats:p>Meckel-Gruber syndrome (MKS) is an autosomal recessive disorder, characterized by a combination of renal cysts and variably associated with features including developmental anomalies of the central nervous system (typically encephalocele), hepatic ductal dysplasia, cysts, and polydactyly. It is a rare syndrome with highest incidence in Gujarati Indians and Finnish population. We report two such cases of MKS in non-Gujarati Indian which were diagnosed by neonatal autopsy.<\/jats:p>","DOI":"10.4103\/0976-3147.91943","type":"journal-article","created":{"date-parts":[[2012,1,17]],"date-time":"2012-01-17T09:46:14Z","timestamp":1326793574000},"page":"56-59","source":"Crossref","is-referenced-by-count":7,"title":["Meckel-Gruber syndrome: Report of two cases"],"prefix":"10.25259","volume":"03","author":[{"given":"C.","family":"Panduranga","sequence":"additional","affiliation":[{"name":"Department of Pathology, KLE University\u2019s Jawaharlal Nehru Medical College, Belgaum, Karnataka, India"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ranjit","family":"Kangle","sequence":"additional","affiliation":[{"name":"Department of Pathology, KLE University\u2019s Jawaharlal Nehru Medical College, Belgaum, Karnataka, India"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Rajshree","family":"Badami","sequence":"additional","affiliation":[{"name":"Department of Pathology, KLE University\u2019s Jawaharlal Nehru Medical College, Belgaum, Karnataka, India"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Prakash V","family":"Patil","sequence":"additional","affiliation":[{"name":"Department of Pathology, KLE University\u2019s Jawaharlal Nehru Medical College, Belgaum, Karnataka, India"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"10894","published-online":{"date-parts":[[2019,9,26]]},"reference":[{"key":"key-10.4103\/0976-3147.91943-1","first-page":"88","volume-title":"Clinical and genetic heterogeneity in Meckel syndrome","author":"Paavola","year":"1997","journal-title":"Hum Genet"},{"key":"key-10.4103\/0976-3147.91943-2","first-page":"1236","volume-title":"Meckel-Gruber syndrome: pathologic manifestations, minimal diagnostic criteria and differential diagnosis","author":"Alexiev","year":"2006","journal-title":"Arch Pathol Lab Med"},{"key":"key-10.4103\/0976-3147.91943-3","first-page":"B484","volume-title":"Meckel-gruber syndrome Associated with CNS malformations - A case report","author":"Bindu","year":"2011","journal-title":"Int J Pharm Biosci"},{"key":"key-10.4103\/0976-3147.91943-4","first-page":"115","volume-title":"Meckel on developmental pathology","author":"Opitz","year":"2006","journal-title":"Am J Med Genet A"},{"key":"key-10.4103\/0976-3147.91943-5","first-page":"301","volume-title":"High incidence of Meckel\u2032s syndrome in Gujarati Indians","author":"Young","year":"1985","journal-title":"J Med Genet"},{"key":"key-10.4103\/0976-3147.91943-6","first-page":"199","volume-title":"Antenatal Ultrasound diagnosis of meckel-gruber syndrome","author":"Dahiya","year":"2001","journal-title":"Indian J Radiol Imaging","ISSN":"http:\/\/id.crossref.org\/issn\/0971-3026","issn-type":"print"},{"key":"key-10.4103\/0976-3147.91943-7","first-page":"173","volume-title":"The Meckel-Gruber syndrome proteins MKS1 and meckelin interact and are required for primary cilium formation","author":"Dawe","year":"2007","journal-title":"Hum Mol Genet"},{"key":"key-10.4103\/0976-3147.91943-8","first-page":"591","volume-title":"Molecular diagnostics of Meckel-Gruber syndrome highlights phenotypic difference between MKS1 and MKS3","author":"Consugar","year":"2007","journal-title":"Hum Genet"},{"key":"key-10.4103\/0976-3147.91943-9","first-page":"497","volume-title":"Meckel syndrome","author":"Salonen","year":"1998","journal-title":"J Med Genet"},{"key":"key-10.4103\/0976-3147.91943-10","first-page":"97","volume-title":"Goldston syndrome reconsidered","author":"Moerman","year":"1993","journal-title":"Genet Couns"},{"key":"key-10.4103\/0976-3147.91943-11","first-page":"875","volume-title":"The ciliary gene RPGRIP1L is mutated in cerebello-oculo-renal syndrome (Joubert syndrome type B) and Meckel syndrome","author":"Delous","year":"2007","journal-title":"Nat Genet"}],"container-title":["Journal of Neurosciences in Rural Practice"],"original-title":[],"language":"en","link":[{"URL":"http:\/\/www.thieme-connect.de\/products\/ejournals\/pdf\/10.4103\/0976-3147.91943.pdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,8,5]],"date-time":"2023-08-05T04:24:14Z","timestamp":1691209454000},"score":1,"resource":{"primary":{"URL":"https:\/\/ruralneuropractice.com\/meckel-gruber-syndrome-report-of-two-cases\/"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2012,1]]},"references-count":11,"journal-issue":{"issue":"01","published-online":{"date-parts":[[2019,9,26]]},"published-print":{"date-parts":[[2012,1]]}},"URL":"https:\/\/doi.org\/10.4103\/0976-3147.91943","relation":{},"ISSN":["0976-3147","0976-3155"],"issn-type":[{"value":"0976-3147","type":"print"},{"value":"0976-3155","type":"electronic"}],"subject":[],"published":{"date-parts":[[2012,1]]}}}