{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,6,22]],"date-time":"2026-06-22T07:45:52Z","timestamp":1782114352635,"version":"3.54.5"},"reference-count":0,"publisher":"Mathematical Modelling and Numerical Simulation with Applications","issue":"03","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["J Pediatr Genet"],"published-print":{"date-parts":[[2019,9]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Spondylo-meta-epiphyseal dysplasia, short limb-abnormal calcification type is a rare autosomal recessive disorder causing severe disproportionate short stature along with typical radiological features. We report an adult male patient with typical features and a novel homozygous nonsense mutation c.2422C\u2009&gt;\u2009T (p.Gln808Ter) in DDR2. This is the first report of the disease from India.<\/jats:p>","DOI":"10.1055\/s-0039-1683382","type":"journal-article","created":{"date-parts":[[2019,3,12]],"date-time":"2019-03-12T19:55:46Z","timestamp":1552420546000},"page":"153-156","source":"Crossref","is-referenced-by-count":2,"title":["Report of a Novel Homozygous Nonsense DDR2 Mutation in an Indian Adult Male with Spondylo-meta-epiphyseal Dysplasia, Short Limb-Abnormal Calcification Type"],"prefix":"10.53391","volume":"08","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-7108-1974","authenticated-orcid":false,"given":"Neerja","family":"Gupta","sequence":"additional","affiliation":[{"name":"Division of Genetics, Department of Pediatrics, All India Institute of Medical Sciences, New Delhi, India"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Alec Reginald Errol","family":"Correa","sequence":"additional","affiliation":[{"name":"Division of Genetics, Department of Pediatrics, All India Institute of Medical Sciences, New Delhi, India"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Manisha","family":"Jana","sequence":"additional","affiliation":[{"name":"Department of Radiodiagnosis, All India Institute of Medical Sciences, New Delhi, India"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Madhulika","family":"Kabra","sequence":"additional","affiliation":[{"name":"Division of Genetics, Department of Pediatrics, All India Institute of Medical Sciences, New Delhi, India"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"31409","published-online":{"date-parts":[[2019,3,12]]},"container-title":["Journal of Pediatric Genetics"],"original-title":[],"language":"en","link":[{"URL":"http:\/\/www.thieme-connect.de\/products\/ejournals\/pdf\/10.1055\/s-0039-1683382.pdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,9,17]],"date-time":"2025-09-17T19:45:35Z","timestamp":1758138335000},"score":1,"resource":{"primary":{"URL":"http:\/\/www.thieme-connect.de\/DOI\/DOI?10.1055\/s-0039-1683382"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2019,3,12]]},"references-count":0,"journal-issue":{"issue":"03","published-online":{"date-parts":[[2019,8,9]]},"published-print":{"date-parts":[[2019,9]]}},"URL":"https:\/\/doi.org\/10.1055\/s-0039-1683382","relation":{},"ISSN":["2146-4596","2146-460X"],"issn-type":[{"value":"2146-4596","type":"print"},{"value":"2146-460X","type":"electronic"}],"subject":[],"published":{"date-parts":[[2019,3,12]]}}}