{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,5,21]],"date-time":"2026-05-21T04:34:01Z","timestamp":1779338041063,"version":"3.51.4"},"reference-count":21,"publisher":"Wiley","issue":"6","license":[{"start":{"date-parts":[[2019,3,21]],"date-time":"2019-03-21T00:00:00Z","timestamp":1553126400000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"DOI":"10.13039\/501100003130","name":"Fonds Wetenschappelijk Onderzoek","doi-asserted-by":"publisher","award":["1842318N"],"award-info":[{"award-number":["1842318N"]}],"id":[{"id":"10.13039\/501100003130","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100003441","name":"Universitair Ziekenhuis Gent","doi-asserted-by":"publisher","award":["08\/01M01108"],"award-info":[{"award-number":["08\/01M01108"]}],"id":[{"id":"10.13039\/501100003441","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["American J of Med Genetics Pt A"],"published-print":{"date-parts":[[2019,6]]},"abstract":"<jats:p>Osteogenesis imperfecta (OI) is a heritable connective tissue disorder, mainly characterized by bone fragility and low bone mass. Defects in the type I procollagen\u2010encoding genes account for the majority of OI, but increasingly more rare autosomal recessive (AR) forms are being identified, which are caused by defects in genes involved in collagen metabolism, bone mineralization, or osteoblast differentiation. Bi\u2010allelic mutations in <jats:italic>WNT1<\/jats:italic> have been associated with a rare form of AR OI, characterized by severe osteoporosis, vertebral compression, scoliosis, fractures, short stature, and variable neurological problems. Heterozygous <jats:italic>WNT1<\/jats:italic> mutations have been linked to autosomal dominant early\u2010onset osteoporosis. In this study, we describe the clinical and molecular findings in 10 new patients with AR <jats:italic>WNT1<\/jats:italic>\u2010related OI. Thorough revision of the clinical symptoms of these 10 novel patients and previously published AR <jats:italic>WNT1<\/jats:italic> OI cases highlight ptosis as a unique hallmark in the diagnosis of this OI subtype.<\/jats:p>","DOI":"10.1002\/ajmg.a.61119","type":"journal-article","created":{"date-parts":[[2019,3,21]],"date-time":"2019-03-21T10:47:28Z","timestamp":1553165248000},"page":"908-914","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":24,"title":["Ptosis as a unique hallmark for autosomal recessive <i>WNT1<\/i>\u2010associated osteogenesis imperfecta"],"prefix":"10.1002","volume":"179","author":[{"given":"Sheela","family":"Nampoothiri","sequence":"first","affiliation":[{"name":"Department of Pediatric Genetics Amrita Institute of Medical Sciences &amp; Research Centre  Cochin Kerala India"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-7194-6651","authenticated-orcid":false,"given":"Brecht","family":"Guillemyn","sequence":"additional","affiliation":[{"name":"Department of Biomolecular Medicine Center for Medical Genetics Ghent, Ghent University Hospital  Ghent Belgium"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Nursel","family":"Elcioglu","sequence":"additional","affiliation":[{"name":"Department of Pediatric Genetics Marmara University Medical School  Istanbul Turkey"},{"name":"Department of Medicine Eastern Mediterranean University Medical School  Mersin Turkey"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Sujatha","family":"Jagadeesh","sequence":"additional","affiliation":[{"name":"Department of Clinical Genetics Mediscan Systems  Chennai Tamil Nadu India"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Dhanya","family":"Yesodharan","sequence":"additional","affiliation":[{"name":"Department of Pediatric Genetics Amrita Institute of Medical Sciences &amp; Research Centre  Cochin Kerala India"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Beena","family":"Suresh","sequence":"additional","affiliation":[{"name":"Department of Clinical Genetics Mediscan Systems  Chennai Tamil Nadu India"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Serap","family":"Turan","sequence":"additional","affiliation":[{"name":"Department of Pediatric Endocrinology Marmara University Medical School  Istanbul Turkey"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-4240-2772","authenticated-orcid":false,"given":"Sofie","family":"Symoens","sequence":"additional","affiliation":[{"name":"Department of Biomolecular Medicine Center for Medical Genetics Ghent, Ghent University Hospital  Ghent Belgium"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Fransiska","family":"Malfait","sequence":"additional","affiliation":[{"name":"Department of Biomolecular Medicine Center for Medical Genetics Ghent, Ghent University Hospital  Ghent Belgium"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2019,3,21]]},"reference":[{"key":"e_1_2_7_2_1","doi-asserted-by":"publisher","DOI":"10.1093\/database\/baw093"},{"key":"e_1_2_7_3_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmedgenet-2015-103476"},{"key":"e_1_2_7_4_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmedgenet-2013-101567"},{"key":"e_1_2_7_5_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmedgenet-2013-101750"},{"key":"e_1_2_7_6_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0140-6736(15)00728-X"},{"key":"e_1_2_7_7_1","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/ddu117"},{"key":"e_1_2_7_8_1","doi-asserted-by":"publisher","DOI":"10.1172\/JCI92617"},{"key":"e_1_2_7_9_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.trsl.2016.11.005"},{"key":"e_1_2_7_10_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2013.02.010"},{"key":"e_1_2_7_11_1","doi-asserted-by":"publisher","DOI":"10.1172\/JCI28551"},{"key":"e_1_2_7_12_1","doi-asserted-by":"publisher","DOI":"10.1186\/s12881-018-0639-0"},{"key":"e_1_2_7_13_1","doi-asserted-by":"publisher","DOI":"10.1056\/NEJMoa1215458"},{"key":"e_1_2_7_14_1","doi-asserted-by":"publisher","DOI":"10.1038\/ncomms11920"},{"key":"e_1_2_7_15_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.bone.2018.06.018"},{"key":"e_1_2_7_16_1","first-page":"1","article-title":"Osteogenesis imperfecta","volume":"3","author":"Marini J. 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