{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,7]],"date-time":"2026-10-07T00:35:12Z","timestamp":1791333312907,"version":"4.3.1"},"reference-count":53,"publisher":"Elsevier BV","issue":"3","license":[{"start":{"date-parts":[[2005,3,1]],"date-time":"2005-03-01T00:00:00Z","timestamp":1109635200000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/tdm\/userlicense\/1.0\/"},{"start":{"date-parts":[[2013,7,19]],"date-time":"2013-07-19T00:00:00Z","timestamp":1374192000000},"content-version":"vor","delay-in-days":3062,"URL":"https:\/\/www.elsevier.com\/open-access\/userlicense\/1.0\/"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["The American Journal of Human Genetics"],"published-print":{"date-parts":[[2005,3]]},"DOI":"10.1086\/428679","type":"journal-article","created":{"date-parts":[[2005,2,8]],"date-time":"2005-02-08T18:28:56Z","timestamp":1107887336000},"page":"493-504","source":"Crossref","is-referenced-by-count":114,"title":["Antenatal Presentation of Bardet-Biedl Syndrome May Mimic Meckel Syndrome"],"prefix":"10.1016","volume":"76","author":[{"given":"Houda","family":"Karmous-Benailly","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jelena","family":"Martinovic","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Marie-Claire","family":"Gubler","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yoann","family":"Sirot","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Laure","family":"Clech","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Catherine","family":"Ozilou","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jo\u00eblle","family":"Aug\u00e9","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Nora","family":"Brahimi","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Heather","family":"Etchevers","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Eric","family":"Detrait","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Chantal","family":"Esculpavit","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sophie","family":"Audollent","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"G\u00e9raldine","family":"Goudefroye","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Marie","family":"Gonzales","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Julia","family":"Tantau","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Philippe","family":"Loget","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Madeleine","family":"Joubert","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Dominique","family":"Gaillard","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Corinne","family":"Jeanne-Pasquier","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Anne-Lise","family":"Delezoide","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Marie-Odile","family":"Peter","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ghislaine","family":"Plessis","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Brigitte","family":"Simon-Bouy","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"H\u00e9l\u00e8ne","family":"Dollfus","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Martine","family":"Le Merrer","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Arnold","family":"Munnich","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"F\u00e9recht\u00e9","family":"Encha-Razavi","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Michel","family":"Vekemans","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Tania","family":"Atti\u00e9-Bitach","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"78","reference":[{"key":"10.1086\/428679_bib4","doi-asserted-by":"crossref","first-page":"73","DOI":"10.1097\/00019605-199601000-00011","article-title":"Meckel syndrome and Dandy Walker malformation","volume":"5","author":"Al-Gazali","year":"1996","journal-title":"Clin Dysmorphol"},{"key":"10.1086\/428679_bib5","doi-asserted-by":"crossref","first-page":"628","DOI":"10.1038\/nature02030","article-title":"Basal body dysfunction is a likely cause of pleiotropic Bardet-Biedl syndrome","volume":"425","author":"Ansley","year":"2003","journal-title":"Nature"},{"key":"10.1086\/428679_bib6","doi-asserted-by":"crossref","first-page":"650","DOI":"10.1086\/368204","article-title":"Identification of a novel Bardet-Biedl syndrome protein, BBS7, that shares structural features with BBS1 and BBS2","volume":"72","author":"Badano","year":"2003","journal-title":"Am J Hum Genet"},{"key":"10.1086\/428679_bib7","doi-asserted-by":"crossref","first-page":"1651","DOI":"10.1093\/hmg\/ddg188","article-title":"Heterozygous mutations in BBS1, BBS2 and BBS6 have a potential epistatic effect on Bardet-Biedl patients with two mutations at a second BBS locus","volume":"12","author":"Badano","year":"2003","journal-title":"Hum Mol Genet"},{"key":"10.1086\/428679_bib8","doi-asserted-by":"crossref","first-page":"385","DOI":"10.1177\/088307380201700514","article-title":"Cerebellar vermis hypoplasia in a patient with Bardet-Biedl syndrome","volume":"17","author":"Baskin","year":"2002","journal-title":"J Child Neurol"},{"key":"10.1086\/428679_bib9","doi-asserted-by":"crossref","first-page":"1187","DOI":"10.1086\/375178","article-title":"Genetic interaction of BBS1 mutations with alleles at other BBS loci can result in non-Mendelian Bardet-Biedl syndrome","volume":"72","author":"Beales","year":"2003","journal-title":"Am J Hum Genet"},{"key":"10.1086\/428679_bib10","doi-asserted-by":"crossref","first-page":"437","DOI":"10.1136\/jmg.36.6.437","article-title":"New criteria for improved diagnosis of Bardet-Biedl syndrome: results of a population survey","volume":"36","author":"Beales","year":"1999","journal-title":"J Med Genet"},{"key":"10.1086\/428679_bib11","doi-asserted-by":"crossref","first-page":"606","DOI":"10.1086\/318794","article-title":"Genetic and mutational analyses of a large multiethnic Bardet-Biedl cohort reveal a minor involvement of BBS6 and delineate the critical intervals of other loci","volume":"68","author":"Beales","year":"2001","journal-title":"Am J Hum Genet"},{"key":"10.1086\/428679_bib12","doi-asserted-by":"crossref","first-page":"395","DOI":"10.1002\/ajmg.1320280546","article-title":"Pathology of renal and hepatic anomalies in Meckel syndrome","volume":"3","author":"Blankenberg","year":"1987","journal-title":"Am J Med Genet Suppl"},{"key":"10.1086\/428679_bib13","doi-asserted-by":"crossref","first-page":"51","DOI":"10.1002\/uog.1086","article-title":"Antenatal renal sonographic anomalies and postnatal follow-up of renal involvement in Bardet-Biedl syndrome","volume":"24","author":"Cassart","year":"2004","journal-title":"Ultrasound Obstet Gynecol"},{"key":"10.1086\/428679_bib14","doi-asserted-by":"crossref","first-page":"475","DOI":"10.1086\/423903","article-title":"Comparative genomic analysis identifies an ADP-ribosylation factor-like gene as the cause of Bardet-Biedl syndrome (BBS3)","volume":"75","author":"Chiang","year":"2004","journal-title":"Am J Hum Genet"},{"key":"10.1086\/428679_bib15","doi-asserted-by":"crossref","first-page":"35","DOI":"10.1097\/00019605-200009010-00007","article-title":"Dandy-Walker anomaly in Meckel-Gruber syndrome","volume":"9","author":"Cincinnati","year":"2000","journal-title":"Clin Dysmorphol"},{"key":"10.1086\/428679_bib16","doi-asserted-by":"crossref","first-page":"450","DOI":"10.1097\/00005072-196307000-00007","article-title":"The Dandy-Walker syndrome","volume":"22","author":"D'Agostino","year":"1963","journal-title":"J Neuropathol Exp Neurol"},{"key":"10.1086\/428679_bib17","doi-asserted-by":"crossref","first-page":"989","DOI":"10.1038\/ng1414","article-title":"Mutations in a member of the Ras superfamily of small GTP-binding proteins causes Bardet-Biedl syndrome","volume":"36","author":"Fan","year":"2004","journal-title":"Nat Genet"},{"key":"10.1086\/428679_bib18","doi-asserted-by":"crossref","first-page":"67","DOI":"10.1002\/ajmg.1320090112","article-title":"Spectrum of anomalies in the Meckel syndrome, or: \u201cmaybe there is a malformation syndrome with at least one constant anomaly\u201d","volume":"9","author":"Fraser","year":"1981","journal-title":"Am J Med Genet"},{"key":"10.1086\/428679_bib19","doi-asserted-by":"crossref","first-page":"50","DOI":"10.1002\/ajmg.1320470111","article-title":"Cerebro-reno-digital (Meckel-like) syndrome with Dandy-Walker malformation, cystic kidneys, hepatic fibrosis, and polydactyly","volume":"47","author":"Genuardi","year":"1993","journal-title":"Am J Med Genet"},{"key":"10.1086\/428679_bib20","doi-asserted-by":"crossref","first-page":"269","DOI":"10.1002\/ajmg.1320440302","article-title":"Cystic kidney dysplasia and polydactyly in 3 sibs with Bardet-Biedl syndrome","volume":"44","author":"Gershoni-Baruch","year":"1992","journal-title":"Am J Med Genet"},{"key":"10.1086\/428679_bib21","doi-asserted-by":"crossref","first-page":"337","DOI":"10.3109\/15513818909037738","article-title":"The Goldston syndrome: report of a case","volume":"9","author":"Gloeb","year":"1989","journal-title":"Pediatr Pathol"},{"key":"10.1086\/428679_bib22","first-page":"484","article-title":"Neonatal polycystic kidney with brain defect","volume":"106","author":"Goldston","year":"1963","journal-title":"Am J Dis Child"},{"key":"10.1086\/428679_bib23","first-page":"263","article-title":"Goldston syndrome: report of a case","volume":"12","author":"Gulcan","year":"2001","journal-title":"Genet Couns"},{"key":"10.1086\/428679_bib24","doi-asserted-by":"crossref","first-page":"771","DOI":"10.1212\/WNL.22.8.771","article-title":"The Dandy-Walker syndrome: a clinicopathological study based on 28 cases","volume":"22","author":"Hart","year":"1972","journal-title":"Neurology"},{"key":"10.1086\/428679_bib25","doi-asserted-by":"crossref","first-page":"201","DOI":"10.1002\/ajmg.1320410214","article-title":"Familial renalhepatic-pancreatic dysplasia and Dandy-Walker cyst: a distinct syndrome?","volume":"41","author":"Hunter","year":"1991","journal-title":"Am J Med Genet"},{"key":"10.1086\/428679_bib26","doi-asserted-by":"crossref","first-page":"311","DOI":"10.1136\/jmg.40.5.311","article-title":"Molecular pathology and genetics of congenital hepatorenal fibrocystic syndromes","volume":"40","author":"Johnson","year":"2003","journal-title":"J Med Genet"},{"key":"10.1086\/428679_bib27","doi-asserted-by":"crossref","first-page":"R65","DOI":"10.1093\/hmg\/ddh092","article-title":"The oligogenic properties of Bardet-Biedl syndrome","volume":"13","author":"Katsanis","year":"2004","journal-title":"Hum Mol Genet Suppl"},{"key":"10.1086\/428679_bib28","doi-asserted-by":"crossref","first-page":"2256","DOI":"10.1126\/science.1063525","article-title":"Triallelic inheritance in Bardet-Biedl syndrome, a Mendelian recessive disorder","volume":"293","author":"Katsanis","year":"2001","journal-title":"Science"},{"key":"10.1086\/428679_bib29","doi-asserted-by":"crossref","first-page":"67","DOI":"10.1038\/79201","article-title":"Mutations in MKKS cause obesity, retinal dystrophy and renal malformations associated with Bardet-Biedl syndrome","volume":"26","author":"Katsanis","year":"2000","journal-title":"Nat Genet"},{"key":"10.1086\/428679_bib30","doi-asserted-by":"crossref","first-page":"22","DOI":"10.1086\/341031","article-title":"BBS4 is a minor contributor to Bardet-Biedl syndrome and may also participate in triallelic inheritance","volume":"71","author":"Katsanis","year":"2002","journal-title":"Am J Hum Genet"},{"key":"10.1086\/428679_bib31","doi-asserted-by":"crossref","first-page":"459","DOI":"10.1093\/ajcp\/84.4.459","article-title":"Cystic dysplastic kidneys associated with Dandy-Walker malformation and congenital hepatic fibrosis: report of two cases","volume":"84","author":"Kudo","year":"1985","journal-title":"Am J Clin Pathol"},{"key":"10.1086\/428679_bib32","doi-asserted-by":"crossref","first-page":"541","DOI":"10.1016\/S0092-8674(04)00450-7","article-title":"Comparative genomics identifies a flagellar and basal body proteome that includes the BBS5 human disease gene","volume":"117","author":"Li","year":"2004","journal-title":"Cell"},{"key":"10.1086\/428679_bib33","doi-asserted-by":"crossref","first-page":"104","DOI":"10.1111\/j.1399-0004.1991.tb02995.x","article-title":"The cerebro-reno-digital syndromes: a new community","volume":"39","author":"Lurie","year":"1991","journal-title":"Clin Genet"},{"key":"10.1086\/428679_bib34","first-page":"167","article-title":"Meckel's syndrome: an unusual pedigree","volume":"27","author":"Malpuech","year":"1979","journal-title":"J Genet Hum"},{"key":"10.1086\/428679_bib35","first-page":"97","article-title":"Encephalocele, polycystic kidneys, and polydactyly as an autosomal recessive trait simulating certain other disorders: the Meckel syndrome","volume":"14","author":"Mecke","year":"1971","journal-title":"Ann Genet"},{"key":"10.1086\/428679_bib36","first-page":"483","article-title":"Familial renal dysplasia: microdissection studies in siblings with associated central nervous system and hepatic malformations","volume":"93","author":"Miranda","year":"1972","journal-title":"Arch Pathol"},{"key":"10.1086\/428679_bib37","first-page":"97","article-title":"Goldston syndrome reconsidered","volume":"4","author":"Moerman","year":"1993","journal-title":"Genet Couns"},{"key":"10.1086\/428679_bib38","doi-asserted-by":"crossref","first-page":"211","DOI":"10.1111\/j.1399-0004.1996.tb03289.x","article-title":"Dandy-Walker malformation and polydactyly: a possible expression of hydrolethalus syndrome","volume":"49","author":"Morava","year":"1996","journal-title":"Clin Genet"},{"key":"10.1086\/428679_bib39","doi-asserted-by":"crossref","first-page":"456","DOI":"10.1007\/s00439-002-0817-0","article-title":"A novel locus for Meckel-Gruber syndrome, MKS3, maps to chromosome 8q24","volume":"111","author":"Morgan","year":"2002","journal-title":"Hum Genet"},{"key":"10.1086\/428679_bib40","doi-asserted-by":"crossref","first-page":"188","DOI":"10.1038\/88925","article-title":"Identification of the gene that, when mutated, causes the human obesity syndrome BBS4","volume":"28","author":"Mykytyn","year":"2001","journal-title":"Nat Genet"},{"key":"10.1086\/428679_bib41","doi-asserted-by":"crossref","first-page":"429","DOI":"10.1086\/346172","article-title":"Evaluation of complex inheritance involving the most common Bardet-Biedl syndrome locus (BBS1)","volume":"72","author":"Mykytyn","year":"2003","journal-title":"Am J Hum Genet"},{"key":"10.1086\/428679_bib42","doi-asserted-by":"crossref","first-page":"435","DOI":"10.1038\/ng935","article-title":"Identification of the gene (BBS1) most commonly involved in Bardet-Biedl syndrome, a complex human obesity syndrome","volume":"31","author":"Mykytyn","year":"2002","journal-title":"Nat Genet"},{"key":"10.1086\/428679_bib43","doi-asserted-by":"crossref","first-page":"865","DOI":"10.1093\/hmg\/10.8.865","article-title":"Positional cloning of a novel gene on chromosome 16q causing Bardet-Biedl syndrome (BBS2)","volume":"10","author":"Nishimura","year":"2001","journal-title":"Hum Mol Genet"},{"key":"10.1086\/428679_bib44","doi-asserted-by":"crossref","first-page":"213","DOI":"10.1038\/ng1095-213","article-title":"The locus for Meckel syndrome with multiple congenital anomalies maps to chromosome 17q21-q24","volume":"11","author":"Paavola","year":"1995","journal-title":"Nat Genet"},{"key":"10.1086\/428679_bib45","doi-asserted-by":"crossref","first-page":"420","DOI":"10.1002\/ajmg.1320470325","article-title":"Cerebro-reno-digital syndrome in two sibs","volume":"47","author":"Piantanida","year":"1993","journal-title":"Am J Med Genet"},{"key":"10.1086\/428679_bib46","doi-asserted-by":"crossref","first-page":"483","DOI":"10.1002\/ajmg.1320330414","article-title":"Dandy-Walker malformation with postaxial polydactyly: a new syndrome?","volume":"33","author":"Pierquin","year":"1989","journal-title":"Am J Med Genet"},{"key":"10.1086\/428679_bib47","doi-asserted-by":"crossref","first-page":"1095","DOI":"10.1086\/302062","article-title":"A gene for Meckel syndrome maps to chromosome 11q13","volume":"63","author":"Roume","year":"1998","journal-title":"Am J Hum Genet"},{"key":"10.1086\/428679_bib48","doi-asserted-by":"crossref","first-page":"671","DOI":"10.1002\/ajmg.1320180414","article-title":"The Meckel syndrome: clinicopathological findings in 67 patients","volume":"18","author":"Salonen","year":"1984","journal-title":"Am J Med Genet"},{"key":"10.1086\/428679_bib49","doi-asserted-by":"crossref","first-page":"561","DOI":"10.1007\/s00439-002-0733-3","article-title":"Mutation analysis of the MKKS gene in McKusick-Kaufman syndrome and selected Bardet-Biedl syndrome patients","volume":"110","author":"Slavotinek","year":"2002","journal-title":"Hum Genet"},{"key":"10.1086\/428679_bib50","doi-asserted-by":"crossref","first-page":"15","DOI":"10.1038\/79116","article-title":"Mutations in MKKS cause Bardet-Biedl syndrome","volume":"26","author":"Slavotinek","year":"2000","journal-title":"Nat Genet"},{"key":"10.1086\/428679_bib51","doi-asserted-by":"crossref","first-page":"57","DOI":"10.1002\/ajmg.1320550116","article-title":"Dandy-Walker malformation in the Meckel syndrome","volume":"55","author":"Summers","year":"1995","journal-title":"Am J Med Genet"},{"key":"10.1086\/428679_bib52","doi-asserted-by":"crossref","first-page":"189","DOI":"10.1111\/j.1469-8749.1980.tb04327.x","article-title":"Dandy-Walker syndrome: analysis of 21 cases","volume":"22","author":"Tal","year":"1980","journal-title":"Dev Med Child Neurol"},{"key":"10.1086\/428679_bib53","doi-asserted-by":"crossref","first-page":"224","DOI":"10.1136\/jmg.31.3.224","article-title":"Autosomal recessive disorders among Arabs: an overview from Kuwait","volume":"31","author":"Teebi","year":"1994","journal-title":"J Med Genet"},{"key":"10.1086\/428679_bib54","doi-asserted-by":"crossref","first-page":"294","DOI":"10.1002\/ajmg.1320390310","article-title":"Dandy-Walker malformation (variant), cystic dysplastic kidneys, and hepatic fibrosis: a distinct entity or Meckel syndrome?","volume":"39","author":"Walpole","year":"1991","journal-title":"Am J Med Genet"},{"key":"10.1086\/428679_bib55","doi-asserted-by":"crossref","first-page":"357","DOI":"10.1097\/00019605-199610000-00013","article-title":"Meckel-Gruber syndrome concomitant with Dandy-Walker malformation: prenatal sonographic diagnosis in two cases","volume":"5","author":"Yapar","year":"1996","journal-title":"Clin Dysmorphol"},{"key":"10.1086\/428679_bib56","doi-asserted-by":"crossref","first-page":"765","DOI":"10.1136\/jmg.34.9.765","article-title":"Autosomal recessive diseases among Palestinian Arabs","volume":"34","author":"Zlotogora","year":"1997","journal-title":"J Med Genet"}],"container-title":["The American Journal of Human Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0002929707633448?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0002929707633448?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2023,5,2]],"date-time":"2023-05-02T02:44:16Z","timestamp":1682995456000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S0002929707633448"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2005,3]]},"references-count":53,"journal-issue":{"issue":"3","published-print":{"date-parts":[[2005,3]]}},"alternative-id":["S0002929707633448"],"URL":"https:\/\/doi.org\/10.1086\/428679","relation":{},"ISSN":["0002-9297"],"issn-type":[{"value":"0002-9297","type":"print"}],"subject":[],"published":{"date-parts":[[2005,3]]}}}