{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,5,18]],"date-time":"2026-05-18T14:23:36Z","timestamp":1779114216407,"version":"3.51.4"},"reference-count":23,"publisher":"Elsevier BV","issue":"3","license":[{"start":{"date-parts":[[2021,3,1]],"date-time":"2021-03-01T00:00:00Z","timestamp":1614556800000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/tdm\/userlicense\/1.0\/"},{"start":{"date-parts":[[2021,3,1]],"date-time":"2021-03-01T00:00:00Z","timestamp":1614556800000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/legal\/tdmrep-license"}],"content-domain":{"domain":["brainanddevelopment.com","clinicalkey.com","clinicalkey.com.au","clinicalkey.es","clinicalkey.fr","clinicalkey.jp","elsevier.com","sciencedirect.com"],"crossmark-restriction":true},"short-container-title":["Brain and Development"],"published-print":{"date-parts":[[2021,3]]},"DOI":"10.1016\/j.braindev.2020.10.012","type":"journal-article","created":{"date-parts":[[2020,11,13]],"date-time":"2020-11-13T08:42:38Z","timestamp":1605256958000},"page":"380-388","update-policy":"https:\/\/doi.org\/10.1016\/elsevier_cm_policy","source":"Crossref","is-referenced-by-count":12,"title":["Neuroimaging manifestations and genetic heterogeneity of Walker-Warburg syndrome in Saudi patients"],"prefix":"10.1016","volume":"43","author":[{"given":"Sara","family":"Alharbi","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Amal","family":"Alhashem","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Fowzan","family":"Alkuraya","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Fawaz","family":"Kashlan","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Kalthoum","family":"Tlili-Graiess","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"78","reference":[{"key":"10.1016\/j.braindev.2020.10.012_b0005","doi-asserted-by":"crossref","first-page":"78","DOI":"10.1186\/s13052-016-0289-9","article-title":"Congenital muscular dystrophy: from muscle to brain","volume":"42","author":"Falsaperla","year":"2016","journal-title":"Ital J Pediatr"},{"key":"10.1016\/j.braindev.2020.10.012_b0010","doi-asserted-by":"crossref","first-page":"259","DOI":"10.3233\/JND-170255","article-title":"Muscular dystrophy with ribitol-phosphate deficiency: a novel post-translational mechanism in dystroglycanopathy","volume":"4","author":"Kanagawa","year":"2017","journal-title":"J Neuromuscul Dis"},{"key":"10.1016\/j.braindev.2020.10.012_b0015","doi-asserted-by":"crossref","first-page":"1135","DOI":"10.1016\/j.ajhg.2012.10.009","article-title":"Identification of mutations in TMEM5 and ISPD as a cause of severe cobblestone lissencephaly","volume":"91","author":"Vuillaumier-Barrot","year":"2012","journal-title":"Am J Hum Genet"},{"issue":"1","key":"10.1016\/j.braindev.2020.10.012_b0020","doi-asserted-by":"crossref","first-page":"4","DOI":"10.3174\/ajnr.A1223","article-title":"Disorders of cortical formation: MR imaging features","volume":"30","author":"Abdel Razek","year":"2009","journal-title":"AJNR Am J Neuroradiol"},{"key":"10.1016\/j.braindev.2020.10.012_b0025","doi-asserted-by":"crossref","first-page":"E231","DOI":"10.1002\/humu.20844","article-title":"Ethnically diverse causes of Walker-Warburg syndrome (WWS): FCMD mutations are a more common cause of WWS outside of the Middle East","volume":"29","author":"Manzini","year":"2008","journal-title":"Hum Mutat"},{"key":"10.1016\/j.braindev.2020.10.012_b0030","doi-asserted-by":"crossref","first-page":"243","DOI":"10.1007\/s10048-013-0367-8","article-title":"A truncating mutation in B3GNT1 causes severe Walker\u2013Warburg syndrome","volume":"14","author":"Shaheen","year":"2013","journal-title":"Neurogenetics"},{"key":"10.1016\/j.braindev.2020.10.012_b0035","doi-asserted-by":"crossref","first-page":"685","DOI":"10.1007\/s00439-007-0362-y","article-title":"Intragenic deletion in the LARGE gene causes Walker-Warburg syndrome","volume":"121","author":"van Reeuwijk","year":"2007","journal-title":"Hum Genet"},{"key":"10.1016\/j.braindev.2020.10.012_b0040","doi-asserted-by":"crossref","first-page":"1746","DOI":"10.1093\/hmg\/ddt021","article-title":"Missense mutations in beta-1,3-N-acetylglucosaminyltransferase 1 (B3GNT1) cause Walker-Warburg syndrome","volume":"22","author":"Buysse","year":"2013","journal-title":"Hum Mol Genet"},{"key":"10.1016\/j.braindev.2020.10.012_b0045","doi-asserted-by":"crossref","first-page":"907","DOI":"10.1136\/jmg.2005.031963","article-title":"POMT2 mutations cause alpha-dystroglycan hypoglycosylation and Walker-Warburg syndrome","volume":"42","author":"van Reeuwijk","year":"2005","journal-title":"J Med Genet"},{"key":"10.1016\/j.braindev.2020.10.012_b0050","doi-asserted-by":"crossref","first-page":"e61","DOI":"10.1136\/jmg.2003.013870","article-title":"Mutations in the FKRP gene can cause muscle-eye-brain disease and Walker-Warburg syndrome","volume":"41","author":"Beltran-Valero de Bernabe","year":"2004","journal-title":"J Med Genet"},{"key":"10.1016\/j.braindev.2020.10.012_b0055","doi-asserted-by":"crossref","first-page":"100","DOI":"10.1002\/bdra.23331","article-title":"Effect of consanguinity on birth defects in Saudi women: Results from a nested case-control study","volume":"103","author":"Majeed-Saidan","year":"2015","journal-title":"Birth Defects Res A"},{"key":"10.1016\/j.braindev.2020.10.012_b0060","doi-asserted-by":"crossref","first-page":"870","DOI":"10.2741\/4757","article-title":"Precision medicine of monogenic disorders: Lessons learned from the Saudi human genome","volume":"24","author":"Abedalthagafi","year":"2019","journal-title":"Front Biosci (Landmark Ed)"},{"key":"10.1016\/j.braindev.2020.10.012_b0065","doi-asserted-by":"crossref","first-page":"890","DOI":"10.1002\/ana.24964","article-title":"The genetic landscape of familial congenital hydrocephalus","volume":"81","author":"Shaheen","year":"2017","journal-title":"Ann Neurol"},{"key":"10.1016\/j.braindev.2020.10.012_b0070","doi-asserted-by":"crossref","first-page":"1182","DOI":"10.1016\/j.ajhg.2019.04.011","article-title":"Lessons learned from large-scale, first-tier clinical exome sequencing in a highly consanguineous population","volume":"104","author":"Monies","year":"2019","journal-title":"Am J Hum Genet"},{"key":"10.1016\/j.braindev.2020.10.012_b0075","doi-asserted-by":"crossref","first-page":"879","DOI":"10.1016\/j.ajhg.2019.09.019","article-title":"Lessons learned from large-scale, first-tier clinical exome sequencing in a highly consanguineous population","volume":"105","author":"Monies","year":"2019","journal-title":"Am J Hum Genet"},{"key":"10.1016\/j.braindev.2020.10.012_b0080","doi-asserted-by":"crossref","first-page":"675","DOI":"10.1016\/j.nmd.2008.05.014","article-title":"Walker-Warburg Syndrome with POMT1 mutations can be associated with cleft lip and cleft palate","volume":"18","author":"Vajsar","year":"2008","journal-title":"Neuromuscul Disord"},{"key":"10.1016\/j.braindev.2020.10.012_b0085","doi-asserted-by":"crossref","first-page":"121","DOI":"10.1016\/j.jns.2016.10.027","article-title":"A novel mutation in PGAP2 gene causes developmental delay, intellectual disability, epilepsy and microcephaly in consanguineous Saudi family","volume":"371","author":"Naseer","year":"2016","journal-title":"J Neurol Sci"},{"key":"10.1016\/j.braindev.2020.10.012_b0090","doi-asserted-by":"crossref","first-page":"1609","DOI":"10.1038\/gim.2018.50","article-title":"Expanding the phenome and variome of skeletal dysplasia","volume":"20","author":"Maddirevula","year":"2018","journal-title":"Genet Med"},{"key":"10.1016\/j.braindev.2020.10.012_b0095","doi-asserted-by":"crossref","first-page":"845","DOI":"10.1136\/jmg.40.11.845","article-title":"A homozygous nonsense mutation in the fukutin gene causes a Walker-Warburg syndrome phenotype","volume":"40","author":"de Bernabe","year":"2003","journal-title":"J Med Genet"},{"key":"10.1016\/j.braindev.2020.10.012_b0100","doi-asserted-by":"crossref","first-page":"251","DOI":"10.1001\/archneur.63.2.251","article-title":"Spectrum of brain changes in patients with congenital muscular dystrophy and FKRP gene mutations","volume":"63","author":"Mercuri","year":"2006","journal-title":"Arch Neurol"},{"key":"10.1016\/j.braindev.2020.10.012_b0105","doi-asserted-by":"crossref","first-page":"372","DOI":"10.1016\/j.ejmg.2015.05.004","article-title":"ISPD gene homozygous deletion identified by SNP array confirms prenatal manifestation of Walker\u2013Warburg syndrome","volume":"58","author":"Trkova","year":"2015","journal-title":"Eur J Med Genet"},{"key":"10.1016\/j.braindev.2020.10.012_b0110","doi-asserted-by":"crossref","first-page":"E54","DOI":"10.1055\/s-0036-1582303","article-title":"Very early in-utero diagnosis of walker-warburg phenotype: the cutting edge of technology","volume":"2","author":"Achiron","year":"2016","journal-title":"Ultrasound Int Open"},{"key":"10.1016\/j.braindev.2020.10.012_b0115","doi-asserted-by":"crossref","first-page":"488","DOI":"10.1007\/s00247-011-2242-9","article-title":"Walker-Warburg syndrome diagnosed by findings of typical ocular abnormalities on prenatal ultrasound","volume":"42","author":"Brasseur-Daudruy","year":"2012","journal-title":"Pediatr Radiol"}],"container-title":["Brain and Development"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0387760420302898?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0387760420302898?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2025,10,8]],"date-time":"2025-10-08T19:49:50Z","timestamp":1759952990000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S0387760420302898"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2021,3]]},"references-count":23,"journal-issue":{"issue":"3","published-print":{"date-parts":[[2021,3]]}},"alternative-id":["S0387760420302898"],"URL":"https:\/\/doi.org\/10.1016\/j.braindev.2020.10.012","relation":{},"ISSN":["0387-7604"],"issn-type":[{"value":"0387-7604","type":"print"}],"subject":[],"published":{"date-parts":[[2021,3]]},"assertion":[{"value":"Elsevier","name":"publisher","label":"This article is maintained by"},{"value":"Neuroimaging manifestations and genetic heterogeneity of Walker-Warburg syndrome in Saudi patients","name":"articletitle","label":"Article Title"},{"value":"Brain and Development","name":"journaltitle","label":"Journal Title"},{"value":"https:\/\/doi.org\/10.1016\/j.braindev.2020.10.012","name":"articlelink","label":"CrossRef DOI link to publisher maintained version"},{"value":"article","name":"content_type","label":"Content Type"},{"value":"\u00a9 2020 The Japanese Society of Child Neurology. Published by Elsevier B.V. All rights reserved.","name":"copyright","label":"Copyright"}]}}