{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,10]],"date-time":"2026-10-10T18:25:45Z","timestamp":1791656745399,"version":"4.3.4"},"reference-count":56,"publisher":"The Endocrine Society","issue":"4","license":[{"start":{"date-parts":[[2021,11,29]],"date-time":"2021-11-29T00:00:00Z","timestamp":1638144000000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by-nc-nd\/4.0\/"}],"funder":[{"DOI":"10.13039\/501100003399","name":"Science and Technology Commission of Shanghai Municipality","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100003399","id-type":"DOI","asserted-by":"publisher"}]},{"name":"Shanghai Clinical Research center for Children\u2019s Rare Diseases","award":["20MC1920400"],"award-info":[{"award-number":["20MC1920400"]}]},{"name":"Shanghai health and Family Planning Commission","award":["20204Y0346"],"award-info":[{"award-number":["20204Y0346"]}]},{"name":"Pudong New Area Science and Technology Development Fund","award":["PKJ2018-Y46"],"award-info":[{"award-number":["PKJ2018-Y46"]}]},{"name":"National Science Foundation for Young Scientists of China","award":["81900722"],"award-info":[{"award-number":["81900722"]}]},{"name":"Key project of Chongqing Kewei Joint Medical research project","award":["2018ZDXM008"],"award-info":[{"award-number":["2018ZDXM008"]}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2022,3,24]]},"abstract":"<jats:title>Abstract<\/jats:title>\n               <jats:sec>\n                  <jats:title>Context<\/jats:title>\n                  <jats:p>Data and studies based on exome sequencing for the genetic evaluation of short stature are limited, and more large-scale studies are warranted. Some factors increase the likelihood of a monogenic cause of short stature, including skeletal dysplasia, severe short stature, and small for gestational age (SGA) without catch-up growth. However, whether these factors can serve as predictors of molecular diagnosis remains unknown.<\/jats:p>\n               <\/jats:sec>\n               <jats:sec>\n                  <jats:title>Objective<\/jats:title>\n                  <jats:p>We aimed to explore the diagnostic efficiency of the associated risk factors and their exome sequences for screening.<\/jats:p>\n               <\/jats:sec>\n               <jats:sec>\n                  <jats:title>Methods<\/jats:title>\n                  <jats:p>We defined and applied factors that increased the likelihood of monogenic causes of short stature in diagnostic genetic tests based on next-generation sequencing (NGS) in 814 patients with short stature and at least 1 other factor.<\/jats:p>\n               <\/jats:sec>\n               <jats:sec>\n                  <jats:title>Results<\/jats:title>\n                  <jats:p>Pathogenic\/likely pathogenic (P\/LP) variants in genes, copy number variations, and chromosomal abnormalities were identified in 361 patients. We found P\/LP variants among 111 genes, and RASopathies comprised the most important etiology. Short stature combined with other phenotypes significantly increased the likelihood of a monogenic cause, including skeletal dysplasia, facial dysmorphism, and intellectual disability, compared with simple severe short stature (&amp;lt;\u20133 SD scores). We report novel candidate pathogenic genes, KMT2C for unequivocal growth hormone insensitivity and GATA6 for SGA.<\/jats:p>\n               <\/jats:sec>\n               <jats:sec>\n                  <jats:title>Conclusion<\/jats:title>\n                  <jats:p>Our study identified the diagnostic characteristics of NGS in short stature with different risk factors. Our study provides novel insights into the current understanding of the etiology of short stature in patients with different phenotypes.<\/jats:p>\n               <\/jats:sec>","DOI":"10.1210\/clinem\/dgab863","type":"journal-article","created":{"date-parts":[[2021,12,1]],"date-time":"2021-12-01T14:32:01Z","timestamp":1638369121000},"page":"972-985","source":"Crossref","is-referenced-by-count":38,"title":["Clinical Profiles and Genetic Spectra of 814 Chinese Children With Short Stature"],"prefix":"10.1210","volume":"107","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-6338-5222","authenticated-orcid":false,"given":"Xin","family":"Li","sequence":"first","affiliation":[{"name":"Department of Endocrinology and Metabolism, Shanghai Children\u2019s Medical Center, School of Medicine, Shanghai Jiao Tong University, Shanghai, China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ruen","family":"Yao","sequence":"additional","affiliation":[{"name":"Department of Medical 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