Defects in KCNJ16 Cause a Novel Tubulopathy with Hypokalemia, Salt Wasting, Disturbed Acid-Base Homeostasis, and Sensorineural Deafness
KCNJ16 缺陷导致一种新型小管病,伴有低钾血症、盐流失、酸碱平衡紊乱和神经性耳聋
期刊:Journal of the American Society of Nephrology
影响因子:10.3
doi:10.1681/ASN.2020111587
Karl P Schlingmann, Aparna Renigunta, Ewout J Hoorn, Anna-Lena Forst, Vijay Renigunta, Velko Atanasov, Sinthura Mahendran, Tahsin Stefan Barakat, Valentine Gillion, Nathalie Godefroid, Alice S Brooks, Dorien Lugtenberg, Jennifer Lake, Huguette Debaix, Christoph Rudin, Bertrand Knebelmann, Stephanie