扩展肯尼-卡菲综合征1型基因型-表型相关性。

{"title":"扩展肯尼-卡菲综合征1型基因型-表型相关性。","authors":"Manuela Lo Bianco, Federica Sipala, Xena Giada Pappalardo, Gaia Fusto, Roberta Rizzo, Federico Favata, Carla Cimino, Silvia Marino, Martino Ruggieri, Agnese Suppiej, Simone Ronsisvalle, Raffaele Falsaperla","doi":"10.3345/cep.2025.00360","DOIUrl":null,"url":null,"abstract":"","PeriodicalId":36018,"journal":{"name":"Clinical and Experimental Pediatrics","volume":" ","pages":""},"PeriodicalIF":3.2000,"publicationDate":"2025-05-12","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":"0","resultStr":"{\"title\":\"Expanding genotype-phenotype correlation of Kenny-Caffey syndrome type 1.\",\"authors\":\"Manuela Lo Bianco, Federica Sipala, Xena Giada Pappalardo, Gaia Fusto, Roberta Rizzo, Federico Favata, Carla Cimino, Silvia Marino, Martino Ruggieri, Agnese Suppiej, Simone Ronsisvalle, Raffaele Falsaperla\",\"doi\":\"10.3345/cep.2025.00360\",\"DOIUrl\":null,\"url\":null,\"abstract\":\"\",\"PeriodicalId\":36018,\"journal\":{\"name\":\"Clinical and Experimental Pediatrics\",\"volume\":\" \",\"pages\":\"\"},\"PeriodicalIF\":3.2000,\"publicationDate\":\"2025-05-12\",\"publicationTypes\":\"Journal Article\",\"fieldsOfStudy\":null,\"isOpenAccess\":false,\"openAccessPdf\":\"\",\"citationCount\":\"0\",\"resultStr\":null,\"platform\":\"Semanticscholar\",\"paperid\":null,\"PeriodicalName\":\"Clinical and Experimental Pediatrics\",\"FirstCategoryId\":\"1085\",\"ListUrlMain\":\"https://doi.org/10.3345/cep.2025.00360\",\"RegionNum\":0,\"RegionCategory\":null,\"ArticlePicture\":[],\"TitleCN\":null,\"AbstractTextCN\":null,\"PMCID\":null,\"EPubDate\":\"\",\"PubModel\":\"\",\"JCR\":\"Q1\",\"JCRName\":\"PEDIATRICS\",\"Score\":null,\"Total\":0}","platform":"Semanticscholar","paperid":null,"PeriodicalName":"Clinical and Experimental Pediatrics","FirstCategoryId":"1085","ListUrlMain":"https://doi.org/10.3345/cep.2025.00360","RegionNum":0,"RegionCategory":null,"ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"Q1","JCRName":"PEDIATRICS","Score":null,"Total":0}