UBTF单倍不足与UBTF相关的整体发育迟缓和无神经退化的独特面部特征相关。

{"title":"UBTF单倍不足与UBTF相关的整体发育迟缓和无神经退化的独特面部特征相关。","authors":"Tony Yammine, Sandra Mercier, Céline Poirsier, Nathalie Bednarek, Christine Clavel, Benjamin Cogné, Jan M Friedman, Sila Rogan, Marlène Rio, Laurence Lodé, Alban Ziegler","doi":"10.1136/jmg-2025-110686","DOIUrl":null,"url":null,"abstract":"","PeriodicalId":16237,"journal":{"name":"Journal of Medical Genetics","volume":" ","pages":"653-655"},"PeriodicalIF":3.7000,"publicationDate":"2025-09-19","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":"0","resultStr":"{\"title\":\"Commentary on <i>UBTF</i> haploinsufficiency associated with <i>UBTF</i>-related global developmental delay and distinctive facial features without neuroregression.\",\"authors\":\"Tony Yammine, Sandra Mercier, Céline Poirsier, Nathalie Bednarek, Christine Clavel, Benjamin Cogné, Jan M Friedman, Sila Rogan, Marlène Rio, Laurence Lodé, Alban Ziegler\",\"doi\":\"10.1136/jmg-2025-110686\",\"DOIUrl\":null,\"url\":null,\"abstract\":\"\",\"PeriodicalId\":16237,\"journal\":{\"name\":\"Journal of Medical Genetics\",\"volume\":\" \",\"pages\":\"653-655\"},\"PeriodicalIF\":3.7000,\"publicationDate\":\"2025-09-19\",\"publicationTypes\":\"Journal Article\",\"fieldsOfStudy\":null,\"isOpenAccess\":false,\"openAccessPdf\":\"\",\"citationCount\":\"0\",\"resultStr\":null,\"platform\":\"Semanticscholar\",\"paperid\":null,\"PeriodicalName\":\"Journal of Medical Genetics\",\"FirstCategoryId\":\"3\",\"ListUrlMain\":\"https://doi.org/10.1136/jmg-2025-110686\",\"RegionNum\":2,\"RegionCategory\":\"医学\",\"ArticlePicture\":[],\"TitleCN\":null,\"AbstractTextCN\":null,\"PMCID\":null,\"EPubDate\":\"\",\"PubModel\":\"\",\"JCR\":\"Q2\",\"JCRName\":\"GENETICS & HEREDITY\",\"Score\":null,\"Total\":0}","platform":"Semanticscholar","paperid":null,"PeriodicalName":"Journal of Medical Genetics","FirstCategoryId":"3","ListUrlMain":"https://doi.org/10.1136/jmg-2025-110686","RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"Q2","JCRName":"GENETICS & HEREDITY","Score":null,"Total":0}