{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,5,11]],"date-time":"2026-05-11T12:41:27Z","timestamp":1778503287832,"version":"3.51.4"},"reference-count":22,"publisher":"Wiley","issue":"3","license":[{"start":{"date-parts":[[2024,11,18]],"date-time":"2024-11-18T00:00:00Z","timestamp":1731888000000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"},{"start":{"date-parts":[[2024,11,18]],"date-time":"2024-11-18T00:00:00Z","timestamp":1731888000000},"content-version":"tdm","delay-in-days":0,"URL":"http:\/\/doi.wiley.com\/10.1002\/tdm_license_1.1"}],"funder":[{"DOI":"10.13039\/100010119","name":"Stiftelsen Dorothea Olivia, Karl Walter och Jarl Walter Perkl\u00e9ns Minne","doi-asserted-by":"publisher","id":[{"id":"10.13039\/100010119","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100010135","name":"Finska L\u00e4kares\u00e4llskapet","doi-asserted-by":"publisher","id":[{"id":"10.13039\/100010135","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100002341","name":"Academy of Finland","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100002341","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100005744","name":"Lastentautien Tutkimuss\u00e4\u00e4ti\u00f6","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100005744","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100006306","name":"Sigrid Jus\u00e9liuksen S\u00e4\u00e4ti\u00f6","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100006306","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Clinical Genetics"],"published-print":{"date-parts":[[2025,3]]},"abstract":"<jats:title>ABSTRACT<\/jats:title>\n                  <jats:p>\n                    Mulibrey nanism (MUL) is a monogenic growth disorder caused by mutations in\n                    <jats:italic>TRIM37<\/jats:italic>\n                    , with pre\u2010and postnatal growth failure, typical craniofacial features, perimyocardial heart disease, infertility and predisposition to tumors. Clinically, patients are gracile with relative macrocephaly, thin extremities, and narrow shoulders, but the full spectrum of skeletal features remains unknown. We conducted a cross\u2010sectional study in order to further clarify the skeletal phenotype. We assessed radiographs of the long bones and spine in 33 MUL patients, aged 4.5\u201348\u2009years (14 females and 19 males, median age 16.7\u2009years) for skeletal features. Hospital records were reviewed for clinical characteristics and fractures. Results confirmed significant skeletal abnormalities related to MUL. Skeletal changes were present in all patients; long bones were slender and bowed with broad metaphyses and narrow diaphysis, the cortices were thick, and medullary cavities were narrow. The vertebral bodies were tall. Fibrous dysplasia was found in 19\/33 patients (58%); changes were monostotic in 58% and polyostotic in 42%. Altogether 17\/33 patients (52%) had a history of fractures. This study confirms that in addition to short stature, patients with MUL have a specific skeletal dysplasia. Our findings suggest an important role for TRIM37 in cellular functions governing skeletal modelling and remodelling.\n                  <\/jats:p>","DOI":"10.1111\/cge.14647","type":"journal-article","created":{"date-parts":[[2024,11,19]],"date-time":"2024-11-19T02:40:41Z","timestamp":1731984041000},"page":"271-277","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":1,"title":["Skeletal Phenotype in Mulibrey Nanism, A Monogenic Skeletal Dysplasia With Fibrous Dysplasia"],"prefix":"10.1111","volume":"107","author":[{"given":"Susann","family":"Karlberg","sequence":"first","affiliation":[{"name":"Children's Hospital, Pediatric Research Center University of Helsinki and Helsinki University Hospital  Helsinki Finland"},{"name":"Folkh\u00e4lsan Research Center  Helsinki Finland"},{"name":"Research Program for Clinical and Molecular Metabolism, Faculty of Medicine University of Helsinki  Helsinki Finland"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Sanna","family":"Toiviainen\u2010Salo","sequence":"additional","affiliation":[{"name":"Children's Hospital, Pediatric Research Center University of Helsinki and Helsinki University Hospital  Helsinki Finland"},{"name":"Research Program for Clinical and Molecular Metabolism, Faculty of Medicine University of Helsinki  Helsinki Finland"},{"name":"Department of Pediatric Radiology HUS Diagnostic Center, University of Helsinki and Helsinki University Hospital  Helsinki Finland"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Marita","family":"Lipsanen\u2010Nyman","sequence":"additional","affiliation":[{"name":"Children's Hospital, Pediatric Research Center University of Helsinki and Helsinki University Hospital  Helsinki Finland"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Outi","family":"M\u00e4kitie","sequence":"additional","affiliation":[{"name":"Children's Hospital, Pediatric Research Center University of Helsinki and Helsinki University Hospital  Helsinki Finland"},{"name":"Folkh\u00e4lsan Research Center  Helsinki Finland"},{"name":"Research Program for Clinical and Molecular Metabolism, Faculty of Medicine University of Helsinki  Helsinki Finland"},{"name":"Department of Molecular Medicine and Surgery Karolinska Institutet and Clinical Genetics, Karolinska University Hospital  Stockholm Sweden"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2024,11,18]]},"reference":[{"key":"e_1_2_10_2_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.2003.014118"},{"key":"e_1_2_10_3_1","doi-asserted-by":"publisher","DOI":"10.1056\/NEJM200412093512423"},{"key":"e_1_2_10_4_1","doi-asserted-by":"publisher","DOI":"10.1210\/jc.2011-1493"},{"key":"e_1_2_10_5_1","doi-asserted-by":"publisher","DOI":"10.1093\/humrep\/dey103"},{"key":"e_1_2_10_6_1","doi-asserted-by":"publisher","DOI":"10.1002\/path.2538"},{"key":"e_1_2_10_7_1","doi-asserted-by":"publisher","DOI":"10.1038\/77053"},{"key":"e_1_2_10_8_1","doi-asserted-by":"publisher","DOI":"10.1086\/340256"},{"key":"e_1_2_10_9_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.yexcr.2005.04.001"},{"key":"e_1_2_10_10_1","doi-asserted-by":"publisher","DOI":"10.1080\/15384101.2021.1988289"},{"key":"e_1_2_10_11_1","doi-asserted-by":"publisher","DOI":"10.2337\/diabetes.54.12.3577"},{"key":"e_1_2_10_12_1","doi-asserted-by":"publisher","DOI":"10.1002\/ppul.24518"},{"key":"e_1_2_10_13_1","doi-asserted-by":"publisher","DOI":"10.1155\/2022\/8513812"},{"key":"e_1_2_10_14_1","doi-asserted-by":"publisher","DOI":"10.7554\/eLife.62640"},{"key":"e_1_2_10_15_1","doi-asserted-by":"publisher","DOI":"10.1083\/jcb.202010180"},{"key":"e_1_2_10_16_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.bone.2020.115393"},{"key":"e_1_2_10_17_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.bone.2024.117205"},{"key":"e_1_2_10_18_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.2007.053017"},{"key":"e_1_2_10_19_1","doi-asserted-by":"publisher","DOI":"10.1136\/adc.2010.190165"},{"key":"e_1_2_10_20_1","doi-asserted-by":"publisher","DOI":"10.1210\/jc.2008-1805"},{"key":"e_1_2_10_21_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1365-2265.2012.04428.x"},{"key":"e_1_2_10_22_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.molcel.2014.03.047"},{"key":"e_1_2_10_23_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.63132"}],"container-title":["Clinical 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