{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2024,12,13]],"date-time":"2024-12-13T05:34:36Z","timestamp":1734068076361,"version":"3.30.2"},"reference-count":22,"publisher":"Wiley","issue":"1","license":[{"start":{"date-parts":[[2024,9,6]],"date-time":"2024-09-06T00:00:00Z","timestamp":1725580800000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by-nc-nd\/4.0\/"}],"funder":[{"DOI":"10.13039\/501100004359","name":"Vetenskapsr\u00e5det","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100004359","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100009389","name":"Stiftelsen Promobilia","doi-asserted-by":"publisher","id":[{"id":"10.13039\/100009389","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100004047","name":"Karolinska Institutet","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100004047","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Clinical Genetics"],"published-print":{"date-parts":[[2025,1]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>The growth and development of the skeleton is regulated by bone morphogenetic proteins of which several are linked to genetic skeletal disorders. So far, no human skeletal malformations have been associated with variants in <jats:italic>BMP5<\/jats:italic>. Here, we report a patient with biallelic loss of function variants in <jats:italic>BMP5<\/jats:italic> and a syndromic phenotype including skeletal dysostosis, dysmorphic features, hypermobility, laryngo\u2010tracheo\u2010bronchomalacia and atrioventricular septal defect. We discuss the phenotype in relation to the known tissue\u2010specific expression of Bmp5 and similar morphological abnormalities previously reported in experimental animal models. Our findings suggest a new association between <jats:italic>BMP5<\/jats:italic> variants and a range of developmental anomalies, involving ears, heart and skeleton, thereby increasing understanding of BMP5's role in human development.<\/jats:p>","DOI":"10.1111\/cge.14616","type":"journal-article","created":{"date-parts":[[2024,9,6]],"date-time":"2024-09-06T08:29:57Z","timestamp":1725611397000},"page":"78-82","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":0,"title":["Compound heterozygosity for two variants in <i>BMP5<\/i> in human skeletal dysostosis with atrioventricular septal defect"],"prefix":"10.1111","volume":"107","author":[{"ORCID":"https:\/\/orcid.org\/0000-0003-3424-0590","authenticated-orcid":false,"given":"Pernille Ax\u00e9l","family":"Gregersen","sequence":"first","affiliation":[{"name":"Department of Clinical Genetics Aarhus University Hospital  Aarhus Denmark"},{"name":"Centre for Rare Diseases, Department of Paediatrics and Adolescent Medicine AUH  Aarhus Denmark"},{"name":"Department of Clinical Medicine, Health Aarhus University  Aarhus Denmark"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Anna","family":"Hammarsj\u00f6","sequence":"additional","affiliation":[{"name":"Department of Molecular Medicine and Surgery Karolinska Institutet  Stockholm Sweden"},{"name":"Department of Clinical Genetics and Genomics Karolinska University Hospital  Stockholm Sweden"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-2395-8281","authenticated-orcid":false,"given":"Lise","family":"Graversen","sequence":"additional","affiliation":[{"name":"Department of Clinical Genetics Aarhus University Hospital  Aarhus Denmark"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Nis","family":"Brix","sequence":"additional","affiliation":[{"name":"Department of Clinical Genetics Aarhus University Hospital  Aarhus Denmark"},{"name":"Department 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Department of Paediatrics and Adolescent Medicine  Copenhagen Denmark"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Sune","family":"Rubak","sequence":"additional","affiliation":[{"name":"Department of Clinical Medicine, Health Aarhus University  Aarhus Denmark"},{"name":"Department of Paediatrics and Adolescent Medicine AUH  Aarhus Denmark"},{"name":"Center for Paediatric Pulmonology and Allergology, Department of Child and Adolescent Health AUH  Aarhus Denmark"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jesper","family":"Bjerre","sequence":"additional","affiliation":[{"name":"Department of Paediatrics and Adolescent Medicine AUH  Aarhus Denmark"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Serena G.","family":"Piticchio","sequence":"additional","affiliation":[{"name":"Department of Molecular Medicine and Surgery Karolinska Institutet  Stockholm Sweden"},{"name":"Department of Oncology\u2010Pathology Karolinska Institutet  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