{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,6,2]],"date-time":"2026-06-02T09:51:42Z","timestamp":1780393902639,"version":"3.54.1"},"reference-count":32,"publisher":"Wiley","issue":"5","license":[{"start":{"date-parts":[[2014,1,29]],"date-time":"2014-01-29T00:00:00Z","timestamp":1390953600000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["American J of Med Genetics Pt A"],"published-print":{"date-parts":[[2014,5]]},"abstract":"<jats:sec>\n                    <jats:label\/>\n                    <jats:p>\n                      The\n                      <jats:italic>IFITM5<\/jats:italic>\n                      gene has recently been found to be mutated in patients with autosomal dominant osteogenesis imperfecta (OI) type V. This form of OI is characterized by distinctive clinical manifestations, including hyperplastic callus formation at the site of fractures, calcification of the interosseous membrane of the forearm, and dislocation of the head of the radius. Notably, in spite of the fact that a considerable number of patients with\n                      <jats:italic>IFITM5<\/jats:italic>\n                      mutations have been identified, to date all of them have been shown to have the same heterozygous mutation (c.\u201014C&gt;T). Herein, we describe one patient with a de novo c.119C&gt;T heterozygous mutation in\n                      <jats:italic>IFITM5<\/jats:italic>\n                      , which predicts p.Ser40Leu, and another with the recurrent c.\u201014C&gt;T transition that was also apparently de novo. While the patient with the p.Ser40Leu mutation had none of the typical signs of OI type V and was diagnosed with limb shortening at prenatal stages, the patient with the c.\u201014C&gt;T mutation developed hyperplastic calluses and had calcification of the forearm interosseous membrane. This study challenges the lack of allelic and clinical heterogeneity in\n                      <jats:italic>IFITM5<\/jats:italic>\n                      mutations. \u00a9 2014 Wiley Periodicals, Inc.\n                    <\/jats:p>\n                  <\/jats:sec>","DOI":"10.1002\/ajmg.a.36409","type":"journal-article","created":{"date-parts":[[2014,1,29]],"date-time":"2014-01-29T16:24:47Z","timestamp":1391012687000},"page":"1136-1142","source":"Crossref","is-referenced-by-count":39,"title":["Two mutations in\n                    <i>IFITM5<\/i>\n                    causing distinct forms of osteogenesis imperfecta"],"prefix":"10.1002","volume":"164","author":[{"given":"Encarna","family":"Guill\u00e9n\u2010Navarro","sequence":"first","affiliation":[{"name":"Unidad de Gen\u00e9tica M\u00e9dica Servicio de Pediatr\u00eda Hospital Cl\u00ednico Universitario Virgen de la Arrixaca El Palmar Murcia Spain"},{"name":"C\u00e1tedra de Gen\u00e9tica M\u00e9dica Universidad Cat\u00f3lica de San Antonio (UCAM) Murcia Spain"},{"name":"Centro de Investigaci\u00f3n Biom\u00e9dica en Red de Enfermedades Raras (CIBERER) Instituto de Salud Carlos III (ISCIII) Madrid Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mar\u00eda Juliana","family":"Ballesta\u2010Mart\u00ednez","sequence":"additional","affiliation":[{"name":"Unidad de Gen\u00e9tica M\u00e9dica Servicio de Pediatr\u00eda Hospital Cl\u00ednico Universitario Virgen de la Arrixaca El Palmar Murcia Spain"},{"name":"Centro de Investigaci\u00f3n Biom\u00e9dica en Red de Enfermedades Raras (CIBERER) Instituto de Salud Carlos III (ISCIII) Madrid Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mar\u00eda","family":"Valencia","sequence":"additional","affiliation":[{"name":"Instituto de Investigaciones Biom\u00e9dicas Consejo Superior de Investigaciones Cient\u00edficas, Universidad Aut\u00f3noma de Madrid Madrid Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ana Mar\u00eda","family":"Bueno","sequence":"additional","affiliation":[{"name":"Department of Orthopedic Surgery Hospital Universitario de Getafe Madrid Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Victor","family":"Martinez\u2010Glez","sequence":"additional","affiliation":[{"name":"Centro de Investigaci\u00f3n Biom\u00e9dica en Red de Enfermedades Raras (CIBERER) Instituto de Salud Carlos III (ISCIII) Madrid Spain"},{"name":"Instituto de Gen\u00e9tica M\u00e9dica y Molecular (INGEMM) Hospital Universitario La Paz\u2010IdiPaz Universidad Aut\u00f3noma de Madrid Madrid Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Vanesa","family":"L\u00f3pez\u2010Gonz\u00e1lez","sequence":"additional","affiliation":[{"name":"Unidad de Gen\u00e9tica M\u00e9dica Servicio de Pediatr\u00eda Hospital Cl\u00ednico Universitario Virgen de la Arrixaca El Palmar Murcia Spain"},{"name":"Centro de Investigaci\u00f3n Biom\u00e9dica en Red de Enfermedades Raras (CIBERER) Instituto de Salud Carlos III (ISCIII) Madrid Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Birute","family":"Burnyte","sequence":"additional","affiliation":[{"name":"Department of Human and Medical Genetics Faculty of Medicine Vilnius University Vilnius Lithuania"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Algirdas","family":"Utkus","sequence":"additional","affiliation":[{"name":"Department of Human and Medical Genetics Faculty of Medicine Vilnius University Vilnius Lithuania"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Pablo","family":"Lapunzina","sequence":"additional","affiliation":[{"name":"Centro de Investigaci\u00f3n Biom\u00e9dica en Red de Enfermedades Raras (CIBERER) Instituto de Salud Carlos III (ISCIII) Madrid Spain"},{"name":"Instituto de Gen\u00e9tica M\u00e9dica y Molecular (INGEMM) Hospital Universitario La Paz\u2010IdiPaz Universidad Aut\u00f3noma de Madrid Madrid Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Victor L.","family":"Ruiz\u2010Perez","sequence":"additional","affiliation":[{"name":"Centro de Investigaci\u00f3n Biom\u00e9dica en Red de Enfermedades Raras (CIBERER) Instituto de Salud Carlos III (ISCIII) Madrid Spain"},{"name":"Instituto de Investigaciones Biom\u00e9dicas Consejo Superior de Investigaciones Cient\u00edficas, Universidad Aut\u00f3noma de Madrid Madrid 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