Jaesung Jeon, Minji Kim, Sukdong Yoo, Yoomi Kim, Chong Kun Cheon
{"title":"一名 I 型纤维软骨病患者的新型 COL11A1 基因复合杂合变异体:韩国首例。","authors":"Jaesung Jeon, Minji Kim, Sukdong Yoo, Yoomi Kim, Chong Kun Cheon","doi":"10.6065/apem.2346150.075","DOIUrl":null,"url":null,"abstract":"","PeriodicalId":44915,"journal":{"name":"Annals of Pediatric Endocrinology & Metabolism","volume":null,"pages":null},"PeriodicalIF":2.8000,"publicationDate":"2024-04-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11076226/pdf/","citationCount":"0","resultStr":"{\"title\":\"A novel compound heterozygous variant of the COL11A1 gene in a patient with fibrochondrogenesis type I: the first case in Korea.\",\"authors\":\"Jaesung Jeon, Minji Kim, Sukdong Yoo, Yoomi Kim, Chong Kun Cheon\",\"doi\":\"10.6065/apem.2346150.075\",\"DOIUrl\":null,\"url\":null,\"abstract\":\"\",\"PeriodicalId\":44915,\"journal\":{\"name\":\"Annals of Pediatric Endocrinology & Metabolism\",\"volume\":null,\"pages\":null},\"PeriodicalIF\":2.8000,\"publicationDate\":\"2024-04-01\",\"publicationTypes\":\"Journal Article\",\"fieldsOfStudy\":null,\"isOpenAccess\":false,\"openAccessPdf\":\"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11076226/pdf/\",\"citationCount\":\"0\",\"resultStr\":null,\"platform\":\"Semanticscholar\",\"paperid\":null,\"PeriodicalName\":\"Annals of Pediatric Endocrinology & Metabolism\",\"FirstCategoryId\":\"1085\",\"ListUrlMain\":\"https://doi.org/10.6065/apem.2346150.075\",\"RegionNum\":0,\"RegionCategory\":null,\"ArticlePicture\":[],\"TitleCN\":null,\"AbstractTextCN\":null,\"PMCID\":null,\"EPubDate\":\"2024/4/30 0:00:00\",\"PubModel\":\"Epub\",\"JCR\":\"Q3\",\"JCRName\":\"ENDOCRINOLOGY & METABOLISM\",\"Score\":null,\"Total\":0}","platform":"Semanticscholar","paperid":null,"PeriodicalName":"Annals of Pediatric Endocrinology & Metabolism","FirstCategoryId":"1085","ListUrlMain":"https://doi.org/10.6065/apem.2346150.075","RegionNum":0,"RegionCategory":null,"ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"2024/4/30 0:00:00","PubModel":"Epub","JCR":"Q3","JCRName":"ENDOCRINOLOGY & METABOLISM","Score":null,"Total":0}
期刊介绍:
The Annals of Pediatric Endocrinology & Metabolism Journal is the official publication of the Korean Society of Pediatric Endocrinology. Its formal abbreviated title is “Ann Pediatr Endocrinol Metab”. It is a peer-reviewed open access journal of medicine published in English. The journal was launched in 1996 under the title of ‘Journal of Korean Society of Pediatric Endocrinology’ until 2011 (pISSN 1226-2242). Since 2012, the title is now changed to ‘Annals of Pediatric Endocrinology & Metabolism’. The Journal is published four times per year on the last day of March, June, September, and December. It is widely distributed for free to members of the Korean Society of Pediatric Endocrinology, medical schools, libraries, and academic institutions. The journal is indexed/tracked/covered by web sites of PubMed Central, PubMed, Emerging Sources Citation Index (ESCI), Scopus, EBSCO, EMBASE, KoreaMed, KoMCI, KCI, Science Central, DOI/CrossRef, Directory of Open Access Journals(DOAJ), and Google Scholar. The aims of Annals of Pediatric Endocrinology & Metabolism are to contribute to the advancements in the fields of pediatric endocrinology & metabolism through the scientific reviews and interchange of all of pediatric endocrinology and metabolism. It aims to reflect the latest clinical, translational, and basic research trends from worldwide valuable achievements. In addition, genome research, epidemiology, public education and clinical practice guidelines in each country are welcomed for publication. The Journal particularly focuses on research conducted with Asian-Pacific children whose genetic and environmental backgrounds are different from those of the Western. Area of specific interest include the following : Growth, puberty, glucose metabolism including diabetes mellitus, obesity, nutrition, disorders of sexual development, pituitary, thyroid, parathyroid, adrenal cortex, bone or other endocrine and metabolic disorders from infancy through adolescence.