{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,10]],"date-time":"2026-09-10T16:13:37Z","timestamp":1789056817144,"version":"build-2803163510"},"reference-count":37,"publisher":"Wiley","issue":"10","license":[{"start":{"date-parts":[[2023,7,19]],"date-time":"2023-07-19T00:00:00Z","timestamp":1689724800000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["American J of Med Genetics Pt A"],"published-print":{"date-parts":[[2023,10]]},"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:p>\n                    Biallelic pathogenic variants in\n                    <jats:italic>LAMB1<\/jats:italic>\n                    have been associated with autosomal recessive lissencephaly 5 (OMIM 615191), which is characterized by brain malformations (cobblestone lissencephaly, hydrocephalus), developmental delay, and epilepsy. Pathogenic variants in\n                    <jats:italic>LAMB1<\/jats:italic>\n                    are rare, with only 11 pathogenic variants and 11 patients reported to date. Here, we report on a 6\u2010year\u2010old patient from a consanguineous family with profound developmental delay, microcephaly, and a history of a perinatal cerebrovascular event. Brain magnetic resonance imaging (MRI) showed cerebellar cystic defects, signal intensity abnormalities, and a hypoplastic corpus callosum. Trio\u2010exome analysis revealed a homozygous in\u2010frame deletion of Exons 23 and 24 of\n                    <jats:italic>LAMB1<\/jats:italic>\n                    affecting 104 amino acids including the epidermal growth factor (EGF)\u2010like units 11 and 12 in Domain III. To our knowledge, this is the first reported in\u2010frame deletion in\n                    <jats:italic>LAMB1<\/jats:italic>\n                    . Our findings broaden the clinical and molecular spectrum of\n                    <jats:italic>LAMB1<\/jats:italic>\n                    \u2010associated syndromes.\n                  <\/jats:p>","DOI":"10.1002\/ajmg.a.63349","type":"journal-article","created":{"date-parts":[[2023,7,19]],"date-time":"2023-07-19T06:24:31Z","timestamp":1689747871000},"page":"2656-2663","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":4,"title":["Novel homozygous\n                    <scp>\n                      <i>LAMB1<\/i>\n                    <\/scp>\n                    in\u2010frame deletion in a pediatric patient with brain anomalies and cerebrovascular event"],"prefix":"10.1002","volume":"191","author":[{"ORCID":"https:\/\/orcid.org\/0009-0008-8608-5127","authenticated-orcid":false,"given":"Louiza","family":"Toutouna","sequence":"first","affiliation":[{"name":"Faculty of Medicine Institute of Human Genetics, University Medical Center Freiburg, University of Freiburg  Freiburg Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Stefanie","family":"Beck\u2010Woedl","sequence":"additional","affiliation":[{"name":"Institute of Medical Genetics and Applied Genomics University of T\u00fcbingen  T\u00fcbingen Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ursula","family":"Feige","sequence":"additional","affiliation":[{"name":"Department of Neuroradiology, Faculty of Medicine University Medical Center Freiburg, University of Freiburg  Freiburg Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Birgitta","family":"Glaeser","sequence":"additional","affiliation":[{"name":"Faculty of Medicine Institute of Human Genetics, University Medical Center Freiburg, University of Freiburg  Freiburg Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Katalin","family":"Komlosi","sequence":"additional","affiliation":[{"name":"Faculty of Medicine 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