{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,2]],"date-time":"2026-09-02T04:09:49Z","timestamp":1788322189266,"version":"build-2803163510"},"reference-count":71,"publisher":"The Endocrine Society","issue":"3","license":[{"start":{"date-parts":[[2025,9,26]],"date-time":"2025-09-26T00:00:00Z","timestamp":1758844800000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by-nc-nd\/4.0\/"}],"funder":[{"DOI":"10.13039\/501100020430","name":"LG Chem, Ltd","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100020430","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2026,2,20]]},"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:sec>\n                    <jats:title>Context<\/jats:title>\n                    <jats:p>Most infants born small for gestational age (SGA) experience catch-up growth within 2 years, while 10% to 15% remain short. The cause of this persistent growth failure remains unknown.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Objective<\/jats:title>\n                    <jats:p>To investigate the genetic causes of SGA with short stature (SGA-SS) due to failure of catch-up growth.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Methods<\/jats:title>\n                    <jats:p>A total of 191 children from multicenter SGA-SS cohorts across 7 hospitals in South Korea underwent whole-exome sequencing. Identified copy number variants (CNVs) were confirmed via chromosomal microarray analysis.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Results<\/jats:title>\n                    <jats:p>Genetic variants were identified in 34 children (17.8% diagnostic rate). CNVs accounted for 50% (17\/34), including 6 children with 22q11.2 microdeletion syndrome, predominantly exhibiting mild dysmorphic features without severe intellectual disability (ID), developmental delay (DD) or severe anomalies. Single-nucleotide variants (SNVs) were identified in 17 children (17\/34, 50%). One had compound heterozygous mutations in SLC26A2, 1 likely pathogenic mutation, and another of uncertain significance. The remaining children had heterozygous variants, including 5 pathogenic variants in COL2A1, ACAN, SALL1, TAOK1, ANKRD11 and 11 likely pathogenic variants in PIK3R1, PLAG1, SCUBE3, COL9A2 (in 2 patients), SMAD4, PTPN11 (in 2 patients), CDKN1C, ACAN, NF1. A novel familial Silver-Russell syndrome case was linked to a CDKN1C mutation. Genetic causes were identified in 14 (58.3%) of 24 patients with ID\/DD: 9 with CNVs and 5 with SNVs.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Conclusion<\/jats:title>\n                    <jats:p>SGA-SS has a heterogeneous genetic basis, with CNVs significantly contributing. The variable presentation of 22q11.2 microdeletion syndrome highlights its relevance. A genetic diagnosis is more likely in familial cases or those with ID\/DD, supporting the utility of genetic testing.<\/jats:p>\n                  <\/jats:sec>","DOI":"10.1210\/clinem\/dgaf533","type":"journal-article","created":{"date-parts":[[2025,9,25]],"date-time":"2025-09-25T12:06:10Z","timestamp":1758801970000},"page":"622-635","source":"Crossref","is-referenced-by-count":3,"title":["Genomic Insights into Short Stature in Children Born Small for Gestational Age: A Korean Multicenter Exome Study"],"prefix":"10.1210","volume":"111","author":[{"ORCID":"https:\/\/orcid.org\/0000-0001-8740-8049","authenticated-orcid":false,"given":"Yena","family":"Lee","sequence":"first","affiliation":[{"name":"Department of Pediatrics, Hallym University Sacred Heart Hospital , Anyang 14068 ,","place":["Republic of Korea"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-7040-9600","authenticated-orcid":false,"given":"Hwal 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, Chuncheon 24253 ,","place":["Republic of Korea"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-1518-1791","authenticated-orcid":false,"given":"Go Hun","family":"Seo","sequence":"additional","affiliation":[{"name":"3billion, Inc. , Seoul 06160 ,","place":["Republic of Korea"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-0893-0512","authenticated-orcid":false,"given":"Su Jin","family":"Kim","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Inha University Hospital , Incheon 22332 ,","place":["Republic of Korea"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-7386-0015","authenticated-orcid":false,"given":"Ji-Eun","family":"Lee","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Inha University Hospital , Incheon 22332 ,","place":["Republic of 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