RNPC3的致病变异与垂体功能低下和原发性卵巢功能不全有关

{"title":"RNPC3的致病变异与垂体功能低下和原发性卵巢功能不全有关","authors":"Akin L, Rizzoti K, Gregory Lc, Corredor B, Stabej P Le Quesne, W. H., Buonocore F, Mouilleron S, Capra V, McGlacken-Byrne Sm, Martos-Moreno Ga, Azmanov Dn, Kendirci M, Kurtoglu S, Suntharalingham Jp, Galichet C, Gustincich S, Tasic V, Acherman Jc, A. A, Filipovska A, Tuilpakov A, Maghnie M, Gucev Z, Gonen Zb, P. La, R. I., Lovell-Badge R, Argente J, Dattani Mt","doi":"10.1530/ey.19.1.7","DOIUrl":null,"url":null,"abstract":"","PeriodicalId":23743,"journal":{"name":"Yearbook of Paediatric Endocrinology","volume":"62 1","pages":""},"PeriodicalIF":0.0000,"publicationDate":"2022-09-12","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":"0","resultStr":"{\"title\":\"Pathogenic variants in RNPC3 are associated with hypopituitarism and primary ovarian insufficiency\",\"authors\":\"Akin L, Rizzoti K, Gregory Lc, Corredor B, Stabej P Le Quesne, W. H., Buonocore F, Mouilleron S, Capra V, McGlacken-Byrne Sm, Martos-Moreno Ga, Azmanov Dn, Kendirci M, Kurtoglu S, Suntharalingham Jp, Galichet C, Gustincich S, Tasic V, Acherman Jc, A. A, Filipovska A, Tuilpakov A, Maghnie M, Gucev Z, Gonen Zb, P. La, R. I., Lovell-Badge R, Argente J, Dattani Mt\",\"doi\":\"10.1530/ey.19.1.7\",\"DOIUrl\":null,\"url\":null,\"abstract\":\"\",\"PeriodicalId\":23743,\"journal\":{\"name\":\"Yearbook of Paediatric Endocrinology\",\"volume\":\"62 1\",\"pages\":\"\"},\"PeriodicalIF\":0.0000,\"publicationDate\":\"2022-09-12\",\"publicationTypes\":\"Journal Article\",\"fieldsOfStudy\":null,\"isOpenAccess\":false,\"openAccessPdf\":\"\",\"citationCount\":\"0\",\"resultStr\":null,\"platform\":\"Semanticscholar\",\"paperid\":null,\"PeriodicalName\":\"Yearbook of Paediatric Endocrinology\",\"FirstCategoryId\":\"1085\",\"ListUrlMain\":\"https://doi.org/10.1530/ey.19.1.7\",\"RegionNum\":0,\"RegionCategory\":null,\"ArticlePicture\":[],\"TitleCN\":null,\"AbstractTextCN\":null,\"PMCID\":null,\"EPubDate\":\"\",\"PubModel\":\"\",\"JCR\":\"\",\"JCRName\":\"\",\"Score\":null,\"Total\":0}","platform":"Semanticscholar","paperid":null,"PeriodicalName":"Yearbook of Paediatric Endocrinology","FirstCategoryId":"1085","ListUrlMain":"https://doi.org/10.1530/ey.19.1.7","RegionNum":0,"RegionCategory":null,"ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"","JCRName":"","Score":null,"Total":0}