{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,3,27]],"date-time":"2026-03-27T21:11:41Z","timestamp":1774645901264,"version":"3.50.1"},"reference-count":15,"publisher":"Wiley","issue":"10","license":[{"start":{"date-parts":[[2013,8,15]],"date-time":"2013-08-15T00:00:00Z","timestamp":1376524800000},"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":[[2013,10]]},"abstract":"<jats:title>ABSTRACT<\/jats:title><jats:sec><jats:label\/><jats:p>Wave\u2010shaped ribs were detected at prenatal ultrasound in a 20<jats:sup>+1<\/jats:sup> week female fetus. At birth, skeletal radiographs showed marked hypomineralization and suggested hypophosphatasia. However, elevated blood calcium and alkaline phosphatase excluded hypophosphatasia and raised the possibility of Jansen metaphyseal dysplasia. Molecular analysis of the PTH\/PTHrP receptor gene (<jats:italic>PTH1R<\/jats:italic>) showed heterozygosity for a previously undescribed transversion variant (c.1373T&gt;A), which predicts p.Ile458Lys. In vitro evaluation of wild type and mutant PTH\/PTHrP receptors supported the pathogenic role of the p.Ile458Lys substitution, and confirmed the diagnosis of Jansen metaphyseal dysplasia. This disorder may present prenatally with wavy ribs and in the newborn with hypomineralization, and may therefore be confused with hypophosphatasia. The mottled metaphyseal lesions typically associated with this disease appear only in childhood. \u00a9 2013 Wiley Periodicals, Inc.<\/jats:p><\/jats:sec>","DOI":"10.1002\/ajmg.a.36115","type":"journal-article","created":{"date-parts":[[2013,8,15]],"date-time":"2013-08-15T19:22:35Z","timestamp":1376594555000},"page":"2614-2619","source":"Crossref","is-referenced-by-count":20,"title":["Prenatal presentation and postnatal evolution of a patient with Jansen metaphyseal dysplasia with a novel missense mutation in PTH1R"],"prefix":"10.1002","volume":"161","author":[{"given":"Gianfranco","family":"Savoldi","sequence":"first","affiliation":[{"name":"Laboratory of Genetic Disorders of Childhood A. Nocivelli Institute for Molecular Medicine Department of Pathology, Spedali Civili Brescia Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Claudia","family":"Izzi","sequence":"additional","affiliation":[{"name":"Prenatal Diagnosis Unit Department of Obstetrics and Gynaecology University of Brescia, Spedali Civili Brescia Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Marino","family":"Signorelli","sequence":"additional","affiliation":[{"name":"Prenatal Diagnosis Unit Department of Obstetrics and Gynaecology University of Brescia, Spedali Civili Brescia Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Maria Pia","family":"Bondioni","sequence":"additional","affiliation":[{"name":"Chair of Radiology University of Brescia, Spedali Civili Brescia Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Chiara","family":"Romani","sequence":"additional","affiliation":[{"name":"\u201cAngelo Nocivelli\u201d Institute for Molecular Medicine Division of Gynecologic Oncology University of Brescia Brescia Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Gaetana","family":"Lanzi","sequence":"additional","affiliation":[{"name":"Laboratory of Genetic Disorders of Childhood A. Nocivelli Institute for Molecular Medicine Department of Pathology, Spedali Civili Brescia Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Daniele","family":"Moratto","sequence":"additional","affiliation":[{"name":"Laboratory of Genetic Disorders of Childhood A. Nocivelli Institute for Molecular Medicine Department of Pathology, Spedali Civili Brescia Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Lucio","family":"Verdoni","sequence":"additional","affiliation":[{"name":"Centro di Auxoendocrinologia Department of Pediatrics University of Brescia, Spedali Civili Brescia Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Moira","family":"Pinotti","sequence":"additional","affiliation":[{"name":"Centro di Auxoendocrinologia Department of Pediatrics University of Brescia, Spedali Civili Brescia Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Federico","family":"Prefumo","sequence":"additional","affiliation":[{"name":"Prenatal Diagnosis Unit Department of Obstetrics and Gynaecology University of Brescia, Spedali Civili Brescia Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Andrea","family":"Superti\u2010Furga","sequence":"additional","affiliation":[{"name":"Departments of Genetics and Pediatrics University of Lausanne Centre Hospitalier Universitaire Vaudois (CHUV) Lausanne Switzerland"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Alba","family":"Pilotta","sequence":"additional","affiliation":[{"name":"Centro di Auxoendocrinologia Department of Pediatrics University of Brescia, Spedali Civili Brescia Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2013,8,15]]},"reference":[{"key":"e_1_2_6_2_1","doi-asserted-by":"publisher","DOI":"10.1210\/jc.2004-0036"},{"key":"e_1_2_6_3_1","first-page":"353","article-title":"Neonatal anthropometric charts: The Italian neonatal study compared with other European studies","volume":"51","author":"Bertino E","year":"2010","journal-title":"JPGN"},{"key":"e_1_2_6_4_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320180216"},{"key":"e_1_2_6_5_1","doi-asserted-by":"crossref","first-page":"556","DOI":"10.1542\/peds.58.4.556","article-title":"Jansen's metaphyseal dysostosis","volume":"58","author":"Gordon SL","year":"1976","journal-title":"Pediatrics"},{"key":"e_1_2_6_6_1","doi-asserted-by":"publisher","DOI":"10.2106\/00004623-195941050-00015"},{"key":"e_1_2_6_7_1","doi-asserted-by":"crossref","first-page":"696","DOI":"10.1201\/9781315365312","volume-title":"Fetal and perinatal skeletal dysplasias: An Atlas of multimodality imaging","author":"Hall CM","year":"2012"},{"key":"e_1_2_6_8_1","first-page":"253","article-title":"Uber atypische Chondystrophie (Achondroplasie) und uber eine noch nicht beschriebene angeborene Wachstumsstorung des Knochensystems: Metaphysare dysostosis","volume":"61","author":"Jansen M","year":"1934","journal-title":"Z Orthop Chir"},{"key":"e_1_2_6_9_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF01957529"},{"key":"e_1_2_6_10_1","first-page":"873","article-title":"Curve trasversali dell' accrescimento fetale","volume":"38","author":"Nicolini U","year":"1986","journal-title":"Minerva Ginecol"},{"key":"e_1_2_6_11_1","doi-asserted-by":"publisher","DOI":"10.1007\/s00247-003-0931-8"},{"key":"e_1_2_6_12_1","first-page":"320","volume-title":"Prenatal diagnosis of congenital anomalies","author":"Romero R","year":"1987"},{"key":"e_1_2_6_13_1","doi-asserted-by":"publisher","DOI":"10.1126\/science.7701349"},{"key":"e_1_2_6_14_1","doi-asserted-by":"publisher","DOI":"10.1056\/NEJM199609053351004"},{"key":"e_1_2_6_15_1","doi-asserted-by":"publisher","DOI":"10.1210\/jc.84.9.3052"},{"key":"e_1_2_6_16_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF02388087"}],"container-title":["American Journal of Medical Genetics Part A"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Fajmg.a.36115","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmg.a.36115","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,10,6]],"date-time":"2023-10-06T22:59:45Z","timestamp":1696633185000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ajmg.a.36115"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2013,8,15]]},"references-count":15,"journal-issue":{"issue":"10","published-print":{"date-parts":[[2013,10]]}},"alternative-id":["10.1002\/ajmg.a.36115"],"URL":"https:\/\/doi.org\/10.1002\/ajmg.a.36115","archive":["Portico"],"relation":{},"ISSN":["1552-4825","1552-4833"],"issn-type":[{"value":"1552-4825","type":"print"},{"value":"1552-4833","type":"electronic"}],"subject":[],"published":{"date-parts":[[2013,8,15]]}}}