{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,8]],"date-time":"2026-10-08T17:50:12Z","timestamp":1791481812545,"version":"4.3.4"},"reference-count":17,"publisher":"Walter de Gruyter GmbH","issue":"9","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2026,9,25]]},"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:sec id=\"j_jpem-2026-0267_abs_001\">\n                    <jats:title>Objectives<\/jats:title>\n                    <jats:p>Short stature is a frequent reason for referral to pediatric endocrinology clinics, and its underlying cause often remains unclear. This study aimed to determine the diagnostic yield of targeted next-generation sequencing (NGS) and to evaluate genotype\u2013phenotype correlations in children with short stature.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec id=\"j_jpem-2026-0267_abs_002\">\n                    <jats:title>Methods<\/jats:title>\n                    <jats:p>This retrospective observational study included 64 children (37 males, 27 females) with short stature (height &lt;\u00a0\u22122 SDS) who underwent targeted NGS using a 185-gene panel. Patients were divided into two groups: those with pathogenic or likely pathogenic variants and all remaining patients. Clinical and anthropometric characteristics were compared between groups.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec id=\"j_jpem-2026-0267_abs_003\">\n                    <jats:title>Results<\/jats:title>\n                    <jats:p>\n                      Genetic variants were identified in 31 patients (48.4\u202f%), and pathogenic or likely pathogenic variants in 18, corresponding to a diagnostic yield of 28.1\u202f%. Variants were distributed across 25 genes, most frequently\n                      <jats:italic>FLNB<\/jats:italic>\n                      (n=3) and\n                      <jats:italic>OBSL1<\/jats:italic>\n                      (n=2). Compared with others, patients with pathogenic or likely pathogenic variants had lower birth weight SDS (\u22121.69\u00a0\u00b1\u00a01.73 vs.\u00a0\u22120.56\u00a0\u00b1\u00a01.08, p=0.046), higher consanguinity (50\u202f% vs. 13\u202f%, p=0.007), and a smaller difference between bone age and chronological age (p=0.031). No differences were found in height SDS, parental height, or target height.\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec id=\"j_jpem-2026-0267_abs_004\">\n                    <jats:title>Conclusions<\/jats:title>\n                    <jats:p>Targeted NGS provides a substantial diagnostic yield in children with short stature and reveals marked genetic heterogeneity. Clinical features such as consanguinity and lower birth weight may help identify patients with a higher likelihood of a genetic etiology. These findings support the integration of genetic testing into the diagnostic evaluation of selected patients with short stature.<\/jats:p>\n                  <\/jats:sec>","DOI":"10.1515\/jpem-2026-0267","type":"journal-article","created":{"date-parts":[[2026,7,14]],"date-time":"2026-07-14T13:55:33Z","timestamp":1784037333000},"page":"910-916","source":"Crossref","is-referenced-by-count":0,"title":["Genotype\u2013phenotype correlations in children with short stature: results of targeted next-generation sequencing"],"prefix":"10.1515","volume":"39","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-6199-1704","authenticated-orcid":false,"given":"Rabia","family":"Meral","sequence":"first","affiliation":[{"name":"Department of Pediatric Endocrinology , Izmir Tepecik Training and Research Hospital , Izmir , T\u00fcrkiye"},{"name":"Department of Pediatric Endocrinology , Necip Faz\u0131l City Hospital , Kahramanmara\u015f , T\u00fcrkiye"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-4770-0365","authenticated-orcid":false,"given":"Eren","family":"Er","sequence":"additional","affiliation":[{"name":"Department of Pediatric Endocrinology , Izmir City Hospital , Izmir , T\u00fcrkiye"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-2696-0195","authenticated-orcid":false,"given":"Berna Ero\u011flu","family":"Filibeli","sequence":"additional","affiliation":[{"name":"Department of Pediatric Endocrinology , Izmir City Hospital , Izmir , T\u00fcrkiye"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-1333-2007","authenticated-orcid":false,"given":"\u00d6zg\u00fcr","family":"K\u0131rb\u0131y\u0131k","sequence":"additional","affiliation":[{"name":"Department of Medical Genetics , Izmir City Hospital , Izmir , T\u00fcrkiye"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-8842-0381","authenticated-orcid":false,"given":"Merve Saka","family":"G\u00fcven\u00e7","sequence":"additional","affiliation":[{"name":"Department of Medical Genetics , Izmir City Hospital , Izmir , T\u00fcrkiye"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-7506-061X","authenticated-orcid":false,"given":"Bumin N.","family":"D\u00fcndar","sequence":"additional","affiliation":[{"name":"Department of Pediatric Endocrinology , Izmir Katip Celebi University , Izmir , T\u00fcrkiye"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"374","published-online":{"date-parts":[[2026,7,15]]},"reference":[{"key":"2026100816572540711_j_jpem-2026-0267_ref_001","doi-asserted-by":"crossref","unstructured":"Dauber, A, Rosenfeld, RG, Hirschhorn, JN. 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