{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,21]],"date-time":"2026-08-21T01:01:17Z","timestamp":1787274077958,"version":"build-2736575974"},"reference-count":27,"publisher":"Wiley","issue":"2","license":[{"start":{"date-parts":[[2018,12,18]],"date-time":"2018-12-18T00:00:00Z","timestamp":1545091200000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"DOI":"10.13039\/100000050","name":"National Heart, Lung, and Blood Institute","doi-asserted-by":"publisher","award":["UM1 HG008900"],"award-info":[{"award-number":["UM1 HG008900"]}],"id":[{"id":"10.13039\/100000050","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100004710","name":"Fondazione Umberto Veronesi","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100004710","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100000053","name":"National Eye Institute","doi-asserted-by":"publisher","id":[{"id":"10.13039\/100000053","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100000051","name":"National Human Genome Research Institute","doi-asserted-by":"publisher","award":["1U54HG006542"],"award-info":[{"award-number":["1U54HG006542"]}],"id":[{"id":"10.13039\/100000051","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["American J of Med Genetics Pt A"],"published-print":{"date-parts":[[2019,2]]},"abstract":"<jats:p>Greenberg skeletal dysplasia is an autosomal recessive, perinatal lethal disorder associated with biallelic variants affecting the lamin B receptor (<jats:italic>LBR<\/jats:italic>) gene. <jats:italic>LBR<\/jats:italic> is also associated with the autosomal recessive anadysplasia\u2010like spondylometaphyseal dysplasia, and the autosomal dominant Pelger\u2013Hu\u00ebt anomaly, a benign laminopathy characterized by anomalies in the nuclear shape of blood granulocytes. The LBR is an inner nuclear membrane protein that binds lamin B proteins (LMNB1 and LMNB2), interacts with chromatin, and exerts a sterol reductase activity. Here, we report on a novel <jats:italic>LBR<\/jats:italic> missense variant [c.1379A&gt;G; p.(D460R)], identified by whole exome sequencing and causing Greenberg dysplasia in two fetuses from a consanguineous Moroccan family. We revised published <jats:italic>LBR<\/jats:italic> variants to propose a genotype\u2013phenotype correlation in <jats:italic>LBR<\/jats:italic> associated diseases. The diverse phenotypes are correlated to the functional domain affected, the heterozygous or homozygous state of the variants, and their different impact on the residual protein function. <jats:italic>LBR<\/jats:italic> represents an instructive example of one gene presenting with two different patterns of inheritance and at least three different clinical phenotypes.<\/jats:p>","DOI":"10.1002\/ajmg.a.61000","type":"journal-article","created":{"date-parts":[[2018,12,18]],"date-time":"2018-12-18T13:13:53Z","timestamp":1545138833000},"page":"306-311","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":12,"title":["A novel case of Greenberg dysplasia and genotype\u2013phenotype correlation analysis for <i>LBR<\/i> pathogenic variants: An instructive example of one gene\u2010multiple phenotypes"],"prefix":"10.1002","volume":"179","author":[{"given":"Elisa","family":"Giorgio","sequence":"first","affiliation":[{"name":"Department of Medical Sciences University of Torino  Torino Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Fabio","family":"Sirchia","sequence":"additional","affiliation":[{"name":"Institute for Maternal and Child Health IRCCS \u201cBurlo Garofolo\u201d  Trieste Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Martino","family":"Bosco","sequence":"additional","affiliation":[{"name":"Pathological Anatomy and Histology Unit San Lazzaro Hospital  Alba Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Nara Lygia M.","family":"Sobreira","sequence":"additional","affiliation":[{"name":"McKusick\u2010Nathans Institute of Genetic Medicine Johns Hopkins University School of Medicine  Baltimore Maryland"},{"name":"Department of Pediatrics Johns Hopkins University School of Medicine  Baltimore Maryland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"name":"Baylor\u2010Hopkins Center for Mendelian 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