关于一例明显矿皮质激素过多的病例,该病例自出生以来就伴有肾病和神经系统症状,其 HSD11B2 基因可能存在新的致病变异。

IF 2 4区 医学 Q2 UROLOGY & NEPHROLOGY
Cristina Hernández Tejedor , Yolanda Romero Salas , María Dolores Miramar Gallart , Alberto José Bríngola Moñux , María José Sánchez Malo , José Luis Peña Segura
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摘要

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A propósito de un caso de exceso aparente de mineralocorticoides, con clínica nefrológica y neurológica desde el nacimiento, y con nueva variante probablemente patogénica en gen HSD11B2
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来源期刊
Nefrologia
Nefrologia 医学-泌尿学与肾脏学
CiteScore
3.40
自引率
7.70%
发文量
148
审稿时长
47 days
期刊介绍: Nefrología is the official publication of the Spanish Society of Nephrology. The Journal publishes articles on basic or clinical research relating to nephrology, arterial hypertension, dialysis and kidney transplants. It is governed by the peer review system and all original papers are subject to internal assessment and external reviews. The journal accepts submissions of articles in English and in Spanish languages.
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