{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,8]],"date-time":"2026-10-08T16:35:54Z","timestamp":1791477354890,"version":"4.3.4"},"reference-count":17,"publisher":"S. Karger AG","issue":"5","license":[{"start":{"date-parts":[[2025,3,3]],"date-time":"2025-03-03T00:00:00Z","timestamp":1740960000000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/karger.com\/pages\/terms-and-conditions"},{"start":{"date-parts":[[2025,3,3]],"date-time":"2025-03-03T00:00:00Z","timestamp":1740960000000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/karger.com\/pages\/terms-and-conditions"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Mol Syndromol"],"abstract":"<jats:p>Introduction: The lamin-B receptor (LBR) gene has two primary functions: maintaining the structural integrity of the nuclear envelope and playing a role in cholesterol biosynthesis. Heterozygous variants in the LBR gene have been associated with Pelger-Hu\u00ebt anomaly (PHA, OMIM #169400), while homozygous or compound heterozygous mutations have been associated with rhizomelic skeletal dysplasia, with or without PHA (OMIM #618019) and Greenberg dysplasia (OMIM #215140). Case Presentation: We report a 4-year-old boy presenting with short stature and short limbs and his mother exhibiting milder findings. Genetic analysis revealed a heterozygous c.1640A&gt;G (p.Asn547Ser) and c.43C&gt;T (p.Arg15*) variants in the LBR gene in both the boy and his mother. The father was identified as a heterozygous carrier of the c.43C&gt;T (p.Arg15*) variant. Peripheral blood smears confirmed the PHA in the patient and his parents. Conclusion: The phenotypic differences observed between the mother and male child in our study highlight the genetic variability and regressive nature of LBR-related skeletal dysplasias. This report shows the complexity of LBR-related phenotypes and expands the clinical spectrum of LBR mutations in rhizomelic skeletal dysplasia with PHA. <\/jats:p>","DOI":"10.1159\/000544916","type":"journal-article","created":{"date-parts":[[2025,3,4]],"date-time":"2025-03-04T12:02:39Z","timestamp":1741089759000},"page":"498-506","source":"Crossref","is-referenced-by-count":2,"title":["A Family of LBR Biallelic Pathogenic Variants Resulting in Rhizomelic Skeletal Dysplasia with Pelger-Hu\u00ebt Anomaly"],"prefix":"10.1159","volume":"16","author":[{"given":"Esra","family":"Dirimtekin","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"\u00c7ekdar","family":"Kapazan","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Bar\u0131\u015f","family":"Y\u0131lmaz","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ahmet Mert","family":"Yan\u0131k","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Bilgen Bilge","family":"Geckinli","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"127","published-online":{"date-parts":[[2025,3,3]]},"reference":[{"key":"ref1","doi-asserted-by":"publisher","DOI":"10.3390\/cells6030028"},{"key":"ref2","doi-asserted-by":"publisher","DOI":"10.1038\/ng925"},{"key":"ref3","doi-asserted-by":"publisher","DOI":"10.1038\/s42003-021-01944-2"},{"key":"ref4","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320290321"},{"key":"ref5","doi-asserted-by":"publisher","DOI":"10.1016\/j.bone.2018.11.006"},{"key":"ref6","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.36808"},{"key":"ref7","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.36019"},{"key":"ref8","doi-asserted-by":"publisher","DOI":"10.1002\/humu.23362"},{"key":"ref9","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.62479"},{"key":"ref10","doi-asserted-by":"publisher","DOI":"10.1016\/j.bone.2020.115601"},{"key":"ref11","doi-asserted-by":"publisher","DOI":"10.1002\/cphg.93"},{"key":"ref12","doi-asserted-by":"publisher","DOI":"10.1086\/373938"},{"key":"ref13","doi-asserted-by":"publisher","DOI":"10.4161\/nucl.1.4.12435"},{"key":"ref14","doi-asserted-by":"publisher","DOI":"10.1002\/pd.1976"},{"key":"ref15","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.61000"},{"key":"ref16","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/ddg003"},{"key":"ref17","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/ddn191"}],"container-title":["Molecular Syndromology"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/karger.com\/msy\/article-pdf\/doi\/10.1159\/000544916\/4345777\/000544916.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/karger.com\/article-pdf\/doi\/10.1159\/000544916","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,10,6]],"date-time":"2025-10-06T16:05:23Z","timestamp":1759766723000},"score":1,"resource":{"primary":{"URL":"https:\/\/karger.com\/article\/doi\/10.1159\/000544916"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2025,3,3]]},"references-count":17,"journal-issue":{"issue":"5","published-online":{"date-parts":[[2025,10,6]]},"published-print":{"date-parts":[[2025,10,8]]}},"URL":"https:\/\/doi.org\/10.1159\/000544916","archive":["Portico"],"relation":{},"ISSN":["1661-8769","1661-8777"],"issn-type":[{"value":"1661-8769","type":"print"},{"value":"1661-8777","type":"electronic"}],"subject":[],"published":{"date-parts":[[2025,3,3]]}}}