{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,10,4]],"date-time":"2025-10-04T17:49:22Z","timestamp":1759600162008,"version":"3.40.5"},"reference-count":16,"publisher":"Wiley","issue":"3","license":[{"start":{"date-parts":[[2018,12,20]],"date-time":"2018-12-20T00:00:00Z","timestamp":1545264000000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"DOI":"10.13039\/100009619","name":"AMED","doi-asserted-by":"publisher","award":["JP18dm0107090 JP18ek0109280 JP18ek0109301 JP18ek0109348 JP18kk020501"],"award-info":[{"award-number":["JP18dm0107090 JP18ek0109280 JP18ek0109301 JP18ek0109348 JP18kk020501"]}],"id":[{"id":"10.13039\/100009619","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":[[2019,3]]},"abstract":"<jats:p>SOFT syndrome (MIM614813) is an extremely rare primordial dwarfism caused by biallelic mutations in the <jats:italic>POC1A<\/jats:italic> gene. It is characterized by prenatal short stature, onychodysplasia, facial dysmorphism, hypotrichosis, and variable skeletal abnormalities including hypoplastic pelvis and sacrum, small hands, and cone\u2010shaped epiphyses, as well as delayed bone age. To the best of our knowledge, only eight <jats:italic>POC1A<\/jats:italic> mutations have been reported in humans to date. We report a 7\u2010year\u2010old Chilean girl with SOFT syndrome arising from a novel <jats:italic>POC1A<\/jats:italic> mutation c. 649C&gt;T, p.Arg217Trp. Although her clinical features were largely compatible with SOFT syndrome, hand X\u2010ray examinations at 3.5 and 6 years unexpectedly showed normal bone age. Automated bone age determination was performed using image analysis software, BoneXpert. This case highlights the importance of the accumulation of patients with <jats:italic>POC1A<\/jats:italic> mutations to further elucidate the detailed clinical features of SOFT syndrome.<\/jats:p>","DOI":"10.1002\/ajmg.a.61015","type":"journal-article","created":{"date-parts":[[2018,12,20]],"date-time":"2018-12-20T09:26:33Z","timestamp":1545297993000},"page":"338-340","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":10,"title":["SOFT syndrome in a patient from Chile"],"prefix":"10.1002","volume":"179","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-4686-6147","authenticated-orcid":false,"given":"Ken","family":"Saida","sequence":"first","affiliation":[{"name":"Department of Human Genetics Graduate School of Medicine, Yokohama City University  Yokohama Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Sebastian","family":"Silva","sequence":"additional","affiliation":[{"name":"Servicio de Neurolog\u00eda Infantil Hospital de Puerto Montt  Puerto Montt Chile"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Benjamin","family":"Solar","sequence":"additional","affiliation":[{"name":"Servicio de Neurolog\u00eda Infantil Hospital de Puerto Montt  Puerto Montt Chile"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Atsushi","family":"Fujita","sequence":"additional","affiliation":[{"name":"Department of Human Genetics Graduate School of Medicine, Yokohama City University  Yokohama Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Kohei","family":"Hamanaka","sequence":"additional","affiliation":[{"name":"Department of Human Genetics Graduate School of Medicine, Yokohama City University  Yokohama Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Satomi","family":"Mitsuhashi","sequence":"additional","affiliation":[{"name":"Department of Human Genetics Graduate School of Medicine, Yokohama City University  Yokohama Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Eriko","family":"Koshimizu","sequence":"additional","affiliation":[{"name":"Department of Human Genetics Graduate School of Medicine, Yokohama City University  Yokohama Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Takeshi","family":"Mizuguchi","sequence":"additional","affiliation":[{"name":"Department of Human Genetics Graduate School of Medicine, Yokohama City University  Yokohama Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Satoko","family":"Miyatake","sequence":"additional","affiliation":[{"name":"Department of Human Genetics Graduate School of Medicine, Yokohama City University  Yokohama Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Atsushi","family":"Takata","sequence":"additional","affiliation":[{"name":"Department of Human Genetics Graduate School of Medicine, Yokohama City University  Yokohama Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-0987-310X","authenticated-orcid":false,"given":"Noriko","family":"Miyake","sequence":"additional","affiliation":[{"name":"Department of Human Genetics Graduate School of Medicine, Yokohama City University  Yokohama Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Naomichi","family":"Matsumoto","sequence":"additional","affiliation":[{"name":"Department of Human Genetics Graduate School of Medicine, Yokohama City University  Yokohama Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2018,12,20]]},"reference":[{"key":"e_1_2_6_2_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.37393"},{"key":"e_1_2_6_3_1","doi-asserted-by":"publisher","DOI":"10.1530\/JME-15-0090"},{"key":"e_1_2_6_4_1","doi-asserted-by":"publisher","DOI":"10.1007\/s00247-007-0656-1"},{"key":"e_1_2_6_5_1","doi-asserted-by":"publisher","DOI":"10.1530\/EJE-17-0431"},{"volume-title":"Radiographic atlas of skeletal development of hand wrist","year":"1971","author":"Greulich W. 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