Bartter syndrome type III with only a synonymous mutation of the CLCNKB gene

2019 ◽  
Vol 92 (6) ◽  
pp. 325-328
Author(s):  
Yufang Xue ◽  
Bin Wang ◽  
Rining Tang ◽  
Haifeng Ni ◽  
Pingsheng Chen ◽  
...  
Keyword(s):  
Bartter Syndrome ◽  
Syndrome Type ◽  
Synonymous Mutation ◽  
Type Iii ◽  
Clcnkb Gene

A founder mutation in the CLCNKB gene causes Bartter syndrome type III in Spain

2005 ◽  
Vol 20 (7) ◽  
pp. 891-896 ◽  
Author(s):  
Juan Rodríguez-Soriano ◽  
Alfredo Vallo ◽  
Gustavo Pérez de Nanclares ◽  
José Ramón Bilbao ◽  
Luis Castaño
Keyword(s):  
Founder Mutation ◽  
Bartter Syndrome ◽  
Syndrome Type ◽  
Type Iii ◽  
Clcnkb Gene

scholarly journals An Adult Case of Bartter Syndrome Type III Presenting with Proteinuria

2016 ◽  
Vol 50 (2) ◽  
pp. 160-164 ◽  
Author(s):  
Eun Jung Cha ◽  
Won Min Hwang ◽  
Sung-Ro Yun ◽  
Moon Hyang Park
Keyword(s):  
Bartter Syndrome ◽  
Syndrome Type ◽  
Adult Case ◽  
Type Iii

Bartter syndrome Type III and congenital anomalies of the kidney and urinary tract: an antenatal presentation

2012 ◽  
Vol 78 (12) ◽  
pp. 492-496 ◽  
Author(s):  
Rik Westland ◽  
Wilfried W. Hack ◽  
Henricus J.R. van der Horst ◽  
Lukas B. Uittenbogaard ◽  
Johanna M. van Hagen ◽  
...  
Keyword(s):  
Urinary Tract ◽  
Congenital Anomalies ◽  
Bartter Syndrome ◽  
Syndrome Type ◽  
Type Iii

Renal cysts and nephrocalcinosis in a patient with Bartter syndrome type III

2005 ◽  
Vol 20 (5) ◽  
pp. 676-678 ◽  
Author(s):  
Toru Watanabe ◽  
Toshihiro Tajima
Keyword(s):  
Renal Cysts ◽  
Bartter Syndrome ◽  
Syndrome Type ◽  
Type Iii

The Sugio-Kajii syndrome, proposed tricho-rhino-phalangeal syndrome type III

1986 ◽  
Vol 24 (4) ◽  
pp. 759-760 ◽  
Author(s):  
Nario Niikawa ◽  
Tsutomu Kamei ◽  
John M. Opitz
Keyword(s):  
Syndrome Type ◽  
Type Iii

scholarly journals Long-term follow-up of patients with Bartter syndrome type I and II

2010 ◽  
Vol 25 (9) ◽  
pp. 2976-2981 ◽  
Author(s):  
E. Puricelli ◽  
A. Bettinelli ◽  
N. Borsa ◽  
F. Sironi ◽  
C. Mattiello ◽  
...  
Keyword(s):  
Bartter Syndrome ◽  
Type I ◽  
Syndrome Type ◽  
Long Term Follow Up

Trichorhinophalangeal Syndrome Type III

Dermatology ◽  
1996 ◽  
Vol 193 (4) ◽  
pp. 349-352 ◽  
Author(s):  
P.H. Itin ◽  
S. Bohn ◽  
D. Mathys ◽  
R. Guggenheim ◽  
G. Richard
Keyword(s):  
Syndrome Type ◽  
Type Iii ◽  
Trichorhinophalangeal Syndrome
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