Genetic diagnosis of Bartter syndrome in Iranian patients and detection of a novel homozygous <scp> <i>CLCNKB</i> </scp> mutation-Reference-Cited by-同舟云学术

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Genetic diagnosis of Bartter syndrome in Iranian patients and detection of a novel homozygous CLCNKB mutation

Published:2022-12 Issue:12 Volume:10 Page:
ISSN:2050-0904
Container-title:Clinical Case Reports
language:en
Short-container-title:Clinical Case Reports

Author:

Nojehdeh Somayeh Takrim¹^ORCID,Mojbafan Marzieh²³^ORCID,Hooman Nakysa⁴⁵^ORCID,Hoseini Rozita⁵^ORCID,Otukesh Hasan⁵^ORCID

Affiliation:

1. Dr. Davarnia Genetic Counseling and Diagnosis Center Imam Reza Hospital Ardabil Iran

2. Department of Medical Genetics, School of Medicine Iran University of Medical Sciences (IUMS) Tehran Iran

3. Department of Medical Genetics Ali‐Asghar Children's Hospital Tehran Iran

4. Clinical research Development Center Iran University of Medical Sciences Tehran Iran

5. Department of Pediatric Nephrology Ali‐Asghar Children's Hospital Tehran Iran

Funder

Iran University of Medical Sciences

Publisher

Wiley

Subject

General Medicine

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/ccr3.6698

Reference22 articles.

1. Analysis of CLCNKB mutations at dimer‐interface, calcium‐binding site, and pore reveals a variety of functional alterations in ClC‐Kb channel leading to Bartter syndrome

2. Late-Onset Bartter Syndrome Type II Due to a Homozygous Mutation in KCNJ1 Gene: A Case Report and Literature Review

3. Bartter’s syndrome: clinical findings, genetic causes and therapeutic approach

4. Differential diagnosis of Bartter syndrome, Gitelman syndrome, and pseudo–Bartter/Gitelman syndrome based on clinical characteristics

5. Clinical and Genetic Spectrum of Bartter Syndrome Type 3

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