{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,30]],"date-time":"2026-10-30T00:48:11Z","timestamp":1793321291954,"version":"4.5.0"},"reference-count":21,"publisher":"Elsevier BV","issue":"2","license":[{"start":{"date-parts":[[2023,2,1]],"date-time":"2023-02-01T00:00:00Z","timestamp":1675209600000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/tdm\/userlicense\/1.0\/"},{"start":{"date-parts":[[2023,2,1]],"date-time":"2023-02-01T00:00:00Z","timestamp":1675209600000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/legal\/tdmrep-license"},{"start":{"date-parts":[[2023,2,1]],"date-time":"2023-02-01T00:00:00Z","timestamp":1675209600000},"content-version":"stm-asf","delay-in-days":0,"URL":"https:\/\/doi.org\/10.15223\/policy-017"},{"start":{"date-parts":[[2023,2,1]],"date-time":"2023-02-01T00:00:00Z","timestamp":1675209600000},"content-version":"stm-asf","delay-in-days":0,"URL":"https:\/\/doi.org\/10.15223\/policy-037"},{"start":{"date-parts":[[2023,2,1]],"date-time":"2023-02-01T00:00:00Z","timestamp":1675209600000},"content-version":"stm-asf","delay-in-days":0,"URL":"https:\/\/doi.org\/10.15223\/policy-012"},{"start":{"date-parts":[[2023,2,1]],"date-time":"2023-02-01T00:00:00Z","timestamp":1675209600000},"content-version":"stm-asf","delay-in-days":0,"URL":"https:\/\/doi.org\/10.15223\/policy-029"},{"start":{"date-parts":[[2023,2,1]],"date-time":"2023-02-01T00:00:00Z","timestamp":1675209600000},"content-version":"stm-asf","delay-in-days":0,"URL":"https:\/\/doi.org\/10.15223\/policy-004"}],"content-domain":{"domain":["clinicalkey.com","clinicalkey.com.au","clinicalkey.es","clinicalkey.fr","clinicalkey.jp","elsevier.com","sciencedirect.com"],"crossmark-restriction":true},"short-container-title":["European Journal of Medical Genetics"],"published-print":{"date-parts":[[2023,2]]},"DOI":"10.1016\/j.ejmg.2022.104692","type":"journal-article","created":{"date-parts":[[2022,12,30]],"date-time":"2022-12-30T19:42:58Z","timestamp":1672429378000},"page":"104692","update-policy":"https:\/\/doi.org\/10.1016\/elsevier_cm_policy","source":"Crossref","is-referenced-by-count":11,"title":["Phenotypic spectrum of patients with Poretti-Boltshauser syndrome: Patient report of antenatal ventriculomegaly and esophageal atresia"],"prefix":"10.1016","volume":"66","author":[{"given":"Chlo\u00e9","family":"Geerts","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yves","family":"Sznajer","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Erika","family":"D'haenens","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Dana","family":"Dumitriu","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Marie-C\u00e9cile","family":"Nassogne","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"78","reference":[{"key":"10.1016\/j.ejmg.2022.104692_bib1","doi-asserted-by":"crossref","first-page":"227","DOI":"10.1016\/j.ajhg.2014.07.007","article-title":"Mutations in LAMA1 cause cerebellar dysplasia and cysts with and without retinal dystrophy","volume":"95","author":"Aldinger","year":"2014","journal-title":"Am. J. Hum. Genet."},{"key":"10.1016\/j.ejmg.2022.104692_bib2","doi-asserted-by":"crossref","first-page":"43","DOI":"10.24911\/JBCGenetics\/183-1531458597","article-title":"An atypical presentation of severe congenital contractures and lack of cerebellar involvement in a patient with a novel LAMA1 mutation","author":"Ammari","year":"2018","journal-title":"J. Biochem. Clin. Genet."},{"key":"10.1016\/j.ejmg.2022.104692_bib3","doi-asserted-by":"crossref","first-page":"91","DOI":"10.1016\/j.pediatrneurol.2019.02.021","article-title":"Cerebellar cysts and dysplasias: more diagnoses to consider","volume":"98","author":"Banerjee","year":"2019","journal-title":"Pediatr. Neurol."},{"key":"10.1016\/j.ejmg.2022.104692_bib4","doi-asserted-by":"crossref","first-page":"308","DOI":"10.1007\/s12311-014-0633-9","article-title":"Cerebellar cysts in children: a pattern recognition approach","volume":"14","author":"Boltshauser","year":"2015","journal-title":"Cerebellum"},{"key":"10.1016\/j.ejmg.2022.104692_bib5","article-title":"Ocular manifestations of poretti-boltshauser syndrome: findings from multimodal imaging and electrophysiology","author":"Cai","year":"2020","journal-title":"Retin. Cases Brief Rep. Publish Ah"},{"key":"10.1016\/j.ejmg.2022.104692_bib6","doi-asserted-by":"crossref","first-page":"1","DOI":"10.1016\/j.ydbio.2019.09.016","article-title":"LongAxis: a MATLAB-based program for 3D quantitative analysis of epithelial cell shape and orientation","volume":"458","author":"Carney","year":"2020","journal-title":"Dev. Biol."},{"key":"10.1016\/j.ejmg.2022.104692_bib7","doi-asserted-by":"crossref","first-page":"1","DOI":"10.1038\/s41525-020-0138-z","article-title":"Identification of a likely pathogenic structural variation in the LAMA1 gene by Bionano optical mapping","volume":"5","author":"Chen","year":"2020","journal-title":"npj Genomic Med"},{"key":"10.1016\/j.ejmg.2022.104692_bib8","doi-asserted-by":"crossref","DOI":"10.1007\/s12311-021-01350-8","article-title":"Get your molar tooth right: joubert syndrome misdiagnosis unmasked by whole-exome sequencing","author":"D'Abrusco","year":"2021","journal-title":"Cerebellum"},{"key":"10.1016\/j.ejmg.2022.104692_bib9","doi-asserted-by":"crossref","first-page":"1","DOI":"10.1177\/1179547620948666","article-title":"Understanding what you have found: a family with a mutation in the LAMA1 gene with literature review","volume":"13","author":"Elmas","year":"2020","journal-title":"Clin. Med. Insights Case Rep."},{"key":"10.1016\/j.ejmg.2022.104692_bib10","doi-asserted-by":"crossref","first-page":"1351","DOI":"10.1002\/ajmg.a.61582","article-title":"Patterns of malformation associated with esophageal atresia\/tracheoesophageal fistula: a retrospective single center study","volume":"182","author":"Galarreta","year":"2020","journal-title":"Am. J. Med. Genet."},{"key":"10.1016\/j.ejmg.2022.104692_bib11","doi-asserted-by":"crossref","first-page":"139","DOI":"10.1016\/j.braindev.2021.09.010","article-title":"Antenatal presentation and supratentorial brain abnormalities in a child with Poretti-Boltshauser syndrome","volume":"44","author":"Kamate","year":"2022","journal-title":"Brain Dev."},{"key":"10.1016\/j.ejmg.2022.104692_bib12","doi-asserted-by":"crossref","first-page":"96","DOI":"10.1001\/jamaophthalmol.2017.5060","article-title":"Retinal avascularity and neovascularization associated with LAMA1 (laminin1) mutation in poretti-boltshauser syndrome","volume":"136","author":"Marlow","year":"2018","journal-title":"JAMA Ophthalmol"},{"key":"10.1016\/j.ejmg.2022.104692_bib13","doi-asserted-by":"crossref","first-page":"1262","DOI":"10.1038\/ejhg.2016.19","article-title":"Clinical, neuroradiological and molecular characterization of cerebellar dysplasia with cysts (Poretti-Boltshauser syndrome)","volume":"24","author":"Micalizzi","year":"2016","journal-title":"Eur. J. Hum. Genet."},{"key":"10.1016\/j.ejmg.2022.104692_bib14","doi-asserted-by":"crossref","DOI":"10.1111\/ped.14980","article-title":"LAMA1 variants were identified Joubert syndrome patient","volume":"64","author":"Noguchi","year":"2022","journal-title":"Pediatr. Int."},{"key":"10.1016\/j.ejmg.2022.104692_bib15","doi-asserted-by":"crossref","first-page":"44504","DOI":"10.1074\/jbc.M402455200","article-title":"Molecular analysis of laminin N-terminal domains mediating self-interactions","volume":"279","author":"Odenthal","year":"2004","journal-title":"J. Biol. Chem."},{"key":"10.1016\/j.ejmg.2022.104692_bib16","doi-asserted-by":"crossref","first-page":"79","DOI":"10.1007\/s12311-013-0521-8","article-title":"Ataxia, intellectual disability, and ocular apraxia with cerebellar cysts: a new disease?","volume":"13","author":"Poretti","year":"2014","journal-title":"Cerebellum"},{"key":"10.1016\/j.ejmg.2022.104692_bib17","doi-asserted-by":"crossref","first-page":"1","DOI":"10.1093\/braincomms\/fcab163","article-title":"Identification of LAMA1 mutations ends diagnostic odyssey and has prognostic implications for patients with presumed Joubert syndrome","volume":"3","author":"Powell","year":"2021","journal-title":"Brain Commun"},{"key":"10.1016\/j.ejmg.2022.104692_bib18","doi-asserted-by":"crossref","first-page":"182","DOI":"10.1002\/uog.20111","article-title":"Neurodevelopmental disorder in children believed to have isolated mild ventriculomegaly prenatally","volume":"54","author":"Thorup","year":"2019","journal-title":"Ultrasound Obstet. Gynecol."},{"key":"10.1016\/j.ejmg.2022.104692_bib21","doi-asserted-by":"crossref","first-page":"D480","DOI":"10.1093\/nar\/gkaa1100","article-title":"The universal protein knowledgebase in 2021","volume":"49","author":"UniProt","year":"2021","journal-title":"Nucleic Acids Res"},{"key":"10.1016\/j.ejmg.2022.104692_bib19","doi-asserted-by":"crossref","first-page":"318","DOI":"10.1136\/jmedgenet-2015-103416","article-title":"Cystic cerebellar dysplasia and biallelic LAMA1 mutations: a lamininopathy associated with tics, obsessive compulsive traits and myopia due to cell adhesion and migration defects","volume":"53","author":"Vilboux","year":"2016","journal-title":"J. Med. Genet."},{"key":"10.1016\/j.ejmg.2022.104692_bib20","article-title":"An early diagnostic clue for COL18A1- and LAMA1-associated diseases: high myopia with alopecia areata in the cranial midline","volume":"9","author":"Wang","year":"2021","journal-title":"Front. Cell Dev. Biol."}],"container-title":["European Journal of Medical Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S1769721222002737?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S1769721222002737?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2025,10,29]],"date-time":"2025-10-29T03:53:28Z","timestamp":1761710008000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S1769721222002737"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2023,2]]},"references-count":21,"journal-issue":{"issue":"2","published-print":{"date-parts":[[2023,2]]}},"alternative-id":["S1769721222002737"],"URL":"https:\/\/doi.org\/10.1016\/j.ejmg.2022.104692","relation":{},"ISSN":["1769-7212"],"issn-type":[{"value":"1769-7212","type":"print"}],"subject":[],"published":{"date-parts":[[2023,2]]},"assertion":[{"value":"Elsevier","name":"publisher","label":"This article is maintained by"},{"value":"Phenotypic spectrum of patients with Poretti-Boltshauser syndrome: Patient report of antenatal ventriculomegaly and esophageal atresia","name":"articletitle","label":"Article Title"},{"value":"European Journal of Medical Genetics","name":"journaltitle","label":"Journal Title"},{"value":"https:\/\/doi.org\/10.1016\/j.ejmg.2022.104692","name":"articlelink","label":"CrossRef DOI link to publisher maintained version"},{"value":"article","name":"content_type","label":"Content Type"},{"value":"\u00a9 2023 Elsevier Masson SAS. All rights reserved.","name":"copyright","label":"Copyright"}],"article-number":"104692"}}