A novel de novo SLC26A3 mutation causing congenital chloride diarrhea in a Japanese neonate-Reference-Cited by-同舟云学术

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A novel de novo SLC26A3 mutation causing congenital chloride diarrhea in a Japanese neonate

Published:2020-09-20 Issue:11 Volume:8 Page:
ISSN:2324-9269
Container-title:Molecular Genetics & Genomic Medicine
language:en
Short-container-title:Mol Genet Genomic Med

Author:

Konishi Ken‐ichiro¹²,Mizuochi Tatsuki¹^ORCID,Honma Hitoshi³,Etani Yuri³,Morikawa Kazue⁴,Wada Kazuko⁴,Yamamoto Ken⁵

Affiliation:

1. Department of Pediatrics and Child Health Kurume University School of Medicine Kurume Japan

2. Department of Pediatric Surgery Graduate School of Medicine The University of Tokyo Tokyo Japan

3. Department of Gastroenterology and Endocrinology Osaka Women's and Children's Hospital Osaka Japan

4. Department of Neonatal Medicine Osaka Women's and Children's Hospital Osaka Japan

5. Department of Medical Biochemistry Kurume University School of Medicine Kurume Japan

Publisher

Wiley

Subject

Genetics(clinical),Genetics,Molecular Biology

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/mgg3.1505

Reference16 articles.

1. SLC26A3 mutation in Turkish neonate and her sibling with congenital chloride diarrhea;Dogan E.;Türk Pediatri Arşivi,2020

2. Long-Term Clinical Outcome in Patients With Congenital Chloride Diarrhea

3. Genetic Background of Congenital Chloride Diarrhea in High-Incidence Populations: Finland, Poland, and Saudi Arabia and Kuwait

4. Colonic electrolyte transport in health and in congenital chloride diarrhea.

5. Congenital chloride diarrhoea. Clinical analysis of 21 Finnish patients.

Cited by 3 articles. 订阅此论文施引文献订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献

1. Congenital chloride diarrhoea in a Chinese infant with a compound heterozygous SLC26A3 mutation;BMC Pediatrics;2024-05-04

2. Prenatal diagnosis of congenital chloride diarrhea by whole exome sequencing in four Chinese families and prenatal genotype–phenotype association study;World Journal of Pediatrics;2022-11-22

3. Diagnostic Challenge of Congenital Chloride Diarrhea and Ulcerative Colitis Overlap in an Adult Misdiagnosed with Bartter Syndrome: Case Report and Literature Review;American Journal of Case Reports;2022-05-30

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