HNF1B型
包装D1
医学
队列
基因
基因检测
疾病
肾脏疾病
内科学
病理
遗传学
多囊肾病
生物
基因表达
同源盒
作者
Andrea Domingo-Gallego,Marc Pybus,Gemma Bullich,Mónica Furlano,Laia Ejarque-Vila,Laura Lorente-Grandoso,Patricia Ruíz,Gloria Fraga,Mercedes López González,Juan Alberto Piñero‐Fernández,Lidia Rodríguez-Peña,Isabel Llano‐Rivas,Raquel Sáez González,Anna Bujons-Tur,Gema Ariceta,Lluís Guirado,Roser Torrá,Elisabet Ars
摘要
Two-thirds of patients with early-onset CKD in this cohort had a genetic cause. Just seven genes were responsible for the majority of diagnoses. Establishing a genetic diagnosis is crucial to define the precise aetiology of CKD, which allows accurate genetic counselling and improved patient management.
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