{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,1]],"date-time":"2026-10-01T17:08:27Z","timestamp":1790874507343,"version":"4.1.0"},"reference-count":16,"publisher":"Wiley","issue":"5","license":[{"start":{"date-parts":[[2018,7,27]],"date-time":"2018-07-27T00:00:00Z","timestamp":1532649600000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"DOI":"10.13039\/501100001843","name":"Science and Engineering Research Board","doi-asserted-by":"publisher","award":["SB\/SO\/HS\/005\/2014"],"award-info":[{"award-number":["SB\/SO\/HS\/005\/2014"]}],"id":[{"id":"10.13039\/501100001843","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100006143","name":"Department of Science and Technology","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100006143","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Clinical Genetics"],"published-print":{"date-parts":[[2018,11]]},"abstract":"<jats:p>\n                    We report a boy with Eiken syndrome caused by a homozygous missense variant in Parathyroid hormone 1 receptor\n                    <jats:italic>(PTH1R)<\/jats:italic>\n                    c.103G\u2009&gt;\u2009A [p.(Glu35Lys)]. Eiken syndrome is a very rare skeletal dysplasia due to bi\u2010allelic variants in\n                    <jats:italic>PTH1R.<\/jats:italic>\n                    Only one affected family has been known to\u2010date. The hallmarks include delayed ossification of bone including the epiphyses, pubic symphysis, and primary ossification centers of the short tubular bones, coarse bone trabeculae, and modeling abnormalities. The phenotype being described here recapitulates the delayed ossification and modeling abnormalities of Eiken syndrome. In addition, supernumerary epiphyses of the tubular bones of the hands and primary failure of eruption of teeth were observed in our proband. This report characterizes Eiken syndrome and confirms that bi\u2010allelic hypomorphic variants in\n                    <jats:italic>PTH1R<\/jats:italic>\n                    are probably to cause this condition.\n                  <\/jats:p>","DOI":"10.1111\/cge.13413","type":"journal-article","created":{"date-parts":[[2018,7,10]],"date-time":"2018-07-10T04:36:34Z","timestamp":1531197394000},"page":"457-460","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":23,"title":["Report of second case and clinical and molecular characterization of Eiken syndrome"],"prefix":"10.1111","volume":"94","author":[{"given":"A.","family":"Moirangthem","sequence":"first","affiliation":[{"name":"Department of Medical Genetics, Kasturba Medical College, Manipal Manipal Academy of Higher Education  Manipal India"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"D.L.","family":"Narayanan","sequence":"additional","affiliation":[{"name":"Department of Medical Genetics Nizam's Institute of Medical Sciences  Hyderabad India"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"P.","family":"Jacob","sequence":"additional","affiliation":[{"name":"Department of Medical Genetics, Kasturba Medical College, Manipal Manipal Academy of Higher Education  Manipal India"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"G.","family":"Nishimura","sequence":"additional","affiliation":[{"name":"Center for Intractable Diseases Saitama Medical University Hospital  Saitama Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"G.","family":"Mortier","sequence":"additional","affiliation":[{"name":"Center of Medical Genetics University of Antwerp and Antwerp University Hospital  Antwerp Belgium"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-0139-8239","authenticated-orcid":false,"given":"K.M.","family":"Girisha","sequence":"additional","affiliation":[{"name":"Department of Medical Genetics, Kasturba Medical College, Manipal Manipal Academy of Higher Education  Manipal 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of functional type 1 parathyroid hormone (PTH)\/PTH\u2010related protein receptors in humans is associated with abnormal breast development and tooth impaction","volume":"86","author":"Wysolmerski JJ","year":"2001","journal-title":"J Clin Endocrinol Metab"},{"key":"e_1_2_5_14_1","doi-asserted-by":"publisher","DOI":"10.1172\/JCI2918"},{"key":"e_1_2_5_15_1","doi-asserted-by":"publisher","DOI":"10.1016\/S1534-5807(02)00218-6"},{"key":"e_1_2_5_16_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2008.11.006"},{"key":"e_1_2_5_17_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.archoralbio.2016.03.012"}],"container-title":["Clinical 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