{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,7,18]],"date-time":"2026-07-18T10:00:10Z","timestamp":1784368810158,"version":"3.55.0"},"reference-count":19,"publisher":"Wiley","issue":"2","license":[{"start":{"date-parts":[[2025,2,19]],"date-time":"2025-02-19T00:00:00Z","timestamp":1739923200000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by-nc\/4.0\/"}],"funder":[{"DOI":"10.13039\/501100006741","name":"Stiftelsen Frimurare Barnhuset i Stockholm","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100006741","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\/501100020325","name":"S\u00e4llskapet Barnav\u00e5rd","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100020325","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Clinical Genetics"],"published-print":{"date-parts":[[2025,8]]},"abstract":"<jats:title>ABSTRACT<\/jats:title>\n                  <jats:p>\n                    Bone morphogenetic protein 2 (BMP\u20102), encoded by the\n                    <jats:italic>BMP2<\/jats:italic>\n                    gene located in chromosomal region 20p12, is a signalling protein involved in formation of bone and cartilage and other developmental processes such as cardiac and neural development. Haploinsufficiency of BMP2 has been associated with distinct facial features, short stature, skeletal malformations and cardiac abnormalities. The degree of developmental delay is still controversial. We summarise clinical and genetic findings from seven individuals with\n                    <jats:italic>BMP2<\/jats:italic>\n                    haploinsufficiency. The study participants were identified by genetic testing and their phenotypic data was collected retrospectively from medical records. One individual had a novel frameshift variant in\n                    <jats:italic>BMP2,<\/jats:italic>\n                    and six individuals had 1.3\u20133.7\u2009Mb microdeletions, including\n                    <jats:italic>BMP2<\/jats:italic>\n                    . In our cohort, delayed language development (4\/5) and secretory otitis media (4\/5) were common. Our results, together with previous studies, suggest that individuals with sequence variants or small microdeletions can have mild developmental delay or delay in one area (e.g., verbal development or gross motor development). We propose that global developmental delay is either a rare part or not part of the phenotype. Based on our observations, we propose that evaluation of language development and regular controls of the middle ear should be included in the surveillance of these individuals.\n                  <\/jats:p>","DOI":"10.1111\/cge.14727","type":"journal-article","created":{"date-parts":[[2025,2,19]],"date-time":"2025-02-19T19:14:41Z","timestamp":1739992481000},"page":"199-205","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":2,"title":["Genotypic and Phenotypic Characterization of Seven Individuals With Predicted Bone Morphogenetic Protein 2 (\n                    <scp>BMP2<\/scp>\n                    ) Haploinsufficiency"],"prefix":"10.1111","volume":"108","author":[{"given":"Elin","family":"Stavr\u00e9n\u2010Eriksson","sequence":"first","affiliation":[{"name":"Centre for Clinical Research S\u00f6rmland Uppsala University SE\u2010Sweden  Uppasala Sweden"},{"name":"Department of Molecular Medicine and Surgery Karolinska Institute  Stockholm Sweden"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Anna","family":"Hammarsj\u00f6","sequence":"additional","affiliation":[{"name":"Department of Molecular Medicine and Surgery Karolinska Institute  Stockholm Sweden"},{"name":"Department of Clinical Genetics and Genomics Karolinska University Hospital  Stockholm Sweden"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-0806-5602","authenticated-orcid":false,"given":"Anna","family":"Lindstrand","sequence":"additional","affiliation":[{"name":"Department of Molecular Medicine and Surgery Karolinska Institute  Stockholm Sweden"},{"name":"Department of Clinical Genetics and Genomics Karolinska University Hospital  Stockholm Sweden"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ann","family":"Nordgren","sequence":"additional","affiliation":[{"name":"Department of Molecular Medicine and Surgery Karolinska Institute  Stockholm Sweden"},{"name":"Department of Clinical Genetics and Genomics Karolinska University Hospital  Stockholm Sweden"},{"name":"Department of Clinical Genetics and Genomics Sahlgrenska University Hospital  Gothenburg Sweden"},{"name":"Institute of Biomedicine, Department of Laboratory Medicine University of Gothenburg  Gothenburg Sweden"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Giedre","family":"Grigelioniene","sequence":"additional","affiliation":[{"name":"Department of Molecular Medicine and Surgery Karolinska Institute  Stockholm Sweden"},{"name":"Department of Clinical Genetics and Genomics Karolinska University Hospital  Stockholm Sweden"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Maritta Hellstr\u00f6m","family":"Pigg","sequence":"additional","affiliation":[{"name":"Department of Molecular Medicine and Surgery Karolinska Institute  Stockholm Sweden"},{"name":"Department of Clinical Genetics and Genomics Karolinska University Hospital  Stockholm Sweden"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2025,2,19]]},"reference":[{"key":"e_1_2_10_2_1","doi-asserted-by":"publisher","DOI":"10.1002\/wdev.86"},{"key":"e_1_2_10_3_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.34063"},{"key":"e_1_2_10_4_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.35594"},{"key":"e_1_2_10_5_1","doi-asserted-by":"publisher","DOI":"10.1186\/s13104\u2010015\u20101828\u2010y"},{"key":"e_1_2_10_6_1","doi-asserted-by":"publisher","DOI":"10.1371\/journal.pone.0094201"},{"key":"e_1_2_10_7_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2017.10.006"},{"key":"e_1_2_10_8_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.cellsig.2010.10.003"},{"key":"e_1_2_10_9_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.2008.061002"},{"key":"e_1_2_10_10_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.gim.2023.100863"},{"key":"e_1_2_10_11_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.61992"},{"key":"e_1_2_10_12_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ejmg.2023.104820"},{"key":"e_1_2_10_13_1","doi-asserted-by":"publisher","DOI":"10.1159\/000505506"},{"key":"e_1_2_10_14_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.27.12.729"},{"issue":"9","key":"e_1_2_10_15_1","first-page":"1","article-title":"Use of World Health Organization and CDC Growth Charts for Children Aged 0\u201059 Months in the United States","volume":"59","author":"Grummer\u2010Strawn L. 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