{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,6,10]],"date-time":"2026-06-10T15:09:10Z","timestamp":1781104150523,"version":"3.54.1"},"reference-count":27,"publisher":"Wiley","issue":"5","license":[{"start":{"date-parts":[[2025,11,24]],"date-time":"2025-11-24T00:00:00Z","timestamp":1763942400000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by-nc-nd\/4.0\/"},{"start":{"date-parts":[[2025,11,24]],"date-time":"2025-11-24T00:00:00Z","timestamp":1763942400000},"content-version":"tdm","delay-in-days":0,"URL":"http:\/\/doi.wiley.com\/10.1002\/tdm_license_1.1"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Clinical Genetics"],"published-print":{"date-parts":[[2026,5]]},"abstract":"<jats:title>ABSTRACT<\/jats:title>\n                  <jats:p>\n                    <jats:italic>FAM20B<\/jats:italic>\n                    encodes glycosaminoglycan xylosylkinase, a key enzyme in proteoglycan biosynthesis. Biallelic pathogenic variants have only recently been linked to skeletal dysplasia. We report two pregnancies from one couple, resulting in three fetuses (twin sibs and younger sib) with severe skeletal anomalies. Prenatal findings included enlarged nuchal translucency, short bowed and dislocated limbs, intrauterine growth restriction, and multiple malformations. Intra\u2010uterine fetal death occurred in\n                    <jats:italic>Probands<\/jats:italic>\n                    1 and 2, and neonatal death of Proband 3. Postnatally, all three probands showed limb shortening with joint (sub)luxations and contractures, and craniofacial dysmorphisms. SNP\u2010array and exome analysis revealed compound heterozygosity for two novel\n                    <jats:italic>FAM20B<\/jats:italic>\n                    variants: a paternal ~8\u2009kb deletion encompassing the terminal exon and a maternal missense variant (p.Arg290Cys) at an evolutionary conserved position. The same amino acid residue was previously affected in a child with a milder phenotype. In silico modeling supports a destabilizing effect of the missense change on protein structure, especially due to the loss of a salt bridge essential for catalytic function. This report describes the prenatal phenotype of FAM20B\u2010related dysplasia and can help establish the phenotypic spectrum of the disorder. It further supports the essential role of\n                    <jats:italic>FAM20B<\/jats:italic>\n                    in early skeletal development.\n                  <\/jats:p>","DOI":"10.1111\/cge.70115","type":"journal-article","created":{"date-parts":[[2025,11,24]],"date-time":"2025-11-24T09:55:06Z","timestamp":1763978106000},"page":"946-950","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":1,"title":["<scp>FAM20B<\/scp>\n                    Related Skeletal Dysplasia: Expanding the Prenatal Phenotype"],"prefix":"10.1111","volume":"109","author":[{"ORCID":"https:\/\/orcid.org\/0009-0007-7157-6014","authenticated-orcid":false,"given":"Arda","family":"Ardu\u00e7","sequence":"first","affiliation":[{"name":"Department of Obstetrics and Gynaecology Amsterdam UMC, University of Amsterdam  Amsterdam the Netherlands"},{"name":"Amsterdam Reproduction and Development  Amsterdam the Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Linda C.","family":"Zuurbier","sequence":"additional","affiliation":[{"name":"Department of Human Genetics Amsterdam UMC, University of Amsterdam  Amsterdam the Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Merel C.","family":"van Maarle","sequence":"additional","affiliation":[{"name":"Department of Human Genetics Amsterdam UMC, University of Amsterdam  Amsterdam the Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Peter","family":"Lauffer","sequence":"additional","affiliation":[{"name":"Department of Human Genetics Amsterdam UMC, University of Amsterdam  Amsterdam the Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jonathan I. 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Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Eva","family":"Pajkrt","sequence":"additional","affiliation":[{"name":"Department of Obstetrics and Gynaecology Amsterdam UMC, University of Amsterdam  Amsterdam the Netherlands"},{"name":"Amsterdam Reproduction and Development  Amsterdam the Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2025,11,24]]},"reference":[{"key":"e_1_2_11_2_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.mric.2024.02.009"},{"key":"e_1_2_11_3_1","doi-asserted-by":"publisher","DOI":"10.1002\/dvdy.24479"},{"key":"e_1_2_11_4_1","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.2019152118"},{"key":"e_1_2_11_5_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1399-0004.2007.00933.x"},{"key":"e_1_2_11_6_1","doi-asserted-by":"publisher","DOI":"10.1530\/EC-21-0083"},{"issue":"8","key":"e_1_2_11_7_1","first-page":"1067","article-title":"Genetic Mouse Models for the 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