{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2023,4,2]],"date-time":"2023-04-02T04:14:19Z","timestamp":1680408859144},"reference-count":11,"publisher":"Walter de Gruyter GmbH","issue":"8","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2022,8,26]]},"abstract":"<jats:title>Abstract<\/jats:title>\n               <jats:sec id=\"j_jpem-2021-0773_abs_001\">\n                  <jats:title>Objectives<\/jats:title>\n                  <jats:p>Hypochondroplasia (HCH) is characterized by disproportionate short stature and regarded as a milder form of achondroplasia (ACH), which is another skeletal dysplasia, both caused by variants in fibroblast growth factor receptor 3 (<jats:italic>FGFR3)<\/jats:italic> gene. HCH diagnosis is based on the clinical features and skeletal survey findings. The most common <jats:italic>FGFR3<\/jats:italic> variant in HCH affects the codon 540, leading to substitution of asparagine with lysine in about 70% of patients.<\/jats:p>\n               <\/jats:sec>\n               <jats:sec id=\"j_jpem-2021-0773_abs_002\">\n                  <jats:title>Case presentation<\/jats:title>\n                  <jats:p>Herein, we described the clinical and radiographical manifestations of HCH in affected members of a Turkish family with very rare Asn540Thr (c.1619A&gt;C) variant within hot spot of the gene for this condition.<\/jats:p>\n               <\/jats:sec>\n               <jats:sec id=\"j_jpem-2021-0773_abs_003\">\n                  <jats:title>Conclusions<\/jats:title>\n                  <jats:p>This is a very rarely reported variant in the literature and this report is the first case with this variant in Turkish population. The report also presents the phenotypic variability within a family with the same variant, which is inherent to HCH.<\/jats:p>\n               <\/jats:sec>","DOI":"10.1515\/jpem-2021-0773","type":"journal-article","created":{"date-parts":[[2022,4,19]],"date-time":"2022-04-19T12:29:06Z","timestamp":1650371346000},"page":"1097-1101","source":"Crossref","is-referenced-by-count":0,"title":["Clinical and radiologic evaluation of a Turkish family with hypochondroplasia and a rare <i>FGFR3<\/i> variant"],"prefix":"10.1515","volume":"35","author":[{"given":"Sadiye","family":"Ekinci","sequence":"first","affiliation":[{"name":"Medical Genetics Department , Ankara University School of Medicine , Ankara , Turkey"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Yasemin","family":"\u00dclger","sequence":"additional","affiliation":[{"name":"Medical Genetics Department , Ankara University School of Medicine , Ankara , Turkey"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Mustafa O\u011fuz","family":"Acar","sequence":"additional","affiliation":[{"name":"Medical Genetics Department , Ankara University School of Medicine , Ankara , Turkey"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ay\u015feg\u00fcl","family":"Ceran","sequence":"additional","affiliation":[{"name":"Pediatric Endocrinology Department, Ankara University School of Medicine , Ankara , Turkey"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Zehra","family":"Aycan","sequence":"additional","affiliation":[{"name":"Pediatric Endocrinology Department, Ankara University School of Medicine , Ankara , Turkey"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"\u00d6mer Suat","family":"Fitoz","sequence":"additional","affiliation":[{"name":"Radiology Department, Ankara University School of Medicine , Ankara , Turkey"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Hatice","family":"Ilg\u0131n Ruhi","sequence":"additional","affiliation":[{"name":"Medical Genetics Department , Ankara University School of Medicine , Ankara , Turkey"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"374","published-online":{"date-parts":[[2022,4,20]]},"reference":[{"key":"2023033122070780578_j_jpem-2021-0773_ref_001","doi-asserted-by":"crossref","unstructured":"Wen, X, Li, X, Tang, Y, Tang, J, Zhou, S, Xie, Y, et al.. Chondrocyte FGFR3 regulates bone mass by inhibiting osteogenesis. J Biol Chem 2016;291:24912\u201321. https:\/\/doi.org\/10.1074\/jbc.m116.730093.","DOI":"10.1074\/jbc.M116.730093"},{"key":"2023033122070780578_j_jpem-2021-0773_ref_002","doi-asserted-by":"crossref","unstructured":"Chang, IJ, Sun, A, Bouchard, ML, Kamps, SE, Hale, S, Done, S, et al.. Novel phenotype of achondroplasia due to biallelic FGFR3 pathogenic variants. Am J Med Genet 2018;176:1675\u20139. https:\/\/doi.org\/10.1002\/ajmg.a.38839.","DOI":"10.1002\/ajmg.a.38839"},{"key":"2023033122070780578_j_jpem-2021-0773_ref_003","doi-asserted-by":"crossref","unstructured":"Deng, C, Wynshaw-Boris, A, Zhou, F, Kuo, A, Leder, P. Fibroblast growth factor receptor 3 is a negative regulator of bone growth. 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Occurrence of thanatophoric dysplasia type I (R248C) and hypochondroplasia (N540K) mutations in two patients with achondroplasia phenotype. Am J Med Genet 2001;104:277\u201381. https:\/\/doi.org\/10.1002\/ajmg.10092.","DOI":"10.1002\/ajmg.10092"},{"key":"2023033122070780578_j_jpem-2021-0773_ref_011","doi-asserted-by":"crossref","unstructured":"Grigelionien\u00e9, G, Ekl\u00f6f, O, Laurencikas, E, Ollars, B, Hertel, NT, Dumanski, JP, et al.. L. Asn540Lys mutation in fibroblast growth factor receptor 3 and phenotype in hypochondroplasia. Acta Paediatr 2000;89:1072\u20136.","DOI":"10.1111\/j.1651-2227.2000.tb03353.x"},{"key":"2023033122070780578_j_jpem-2021-0773_ref_007","doi-asserted-by":"crossref","unstructured":"Bocharov, EV, Lesovoy, DM, Goncharuk, SA, Goncharuk, MV, Hristova, K, Arseniev, AS. Structure of FGFR3 transmembrane domain dimer: implications for signaling and human pathologies. 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