Genetic investigation confirmed the clinical phenotype of congenital chloride diarrhea in a Hungarian patient: a case report-Reference-Cited by-同舟云学术

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Genetic investigation confirmed the clinical phenotype of congenital chloride diarrhea in a Hungarian patient: a case report

Published:2019-01-11 Issue:1 Volume:19 Page:
ISSN:1471-2431
Container-title:BMC Pediatrics
language:en
Short-container-title:BMC Pediatr

Author:

Dávid Éva,Török Dóra,Farkas Katalin,Nagy Nikoletta,Horváth Emese,Kiss Zsuzsanna,Oroszlán György,Balogh Márta,Széll Márta

Funder

Gazdaságfejlesztési és Innovációs Operatív Program

Emberi Erőforrás Fejlesztési Operatív Program

Publisher

Springer Science and Business Media LLC

Subject

Pediatrics, Perinatology, and Child Health

Link

http://link.springer.com/content/pdf/10.1186/s12887-019-1390-1.pdf

Reference11 articles.

1. Gamble JL, Fahey KR, Appleton J, MacLachlan E. Congenital alkalosis with diarrhea. J Pediatr. 1945;26:509–18.

2. Darrow DC. Congenital alkalosis with diarrhea. J Pediatr. 1945;26:519–32.

3. Mäkelä S, Kere J, Holmberg C, Höglund P. SLC26A3 mutations in congenital chloride diarrhea. Hum Mutat. 2002;20:425–38.

4. Amato F, Cardillo G, Liguori R, Scorza M, Comegna M, Elce A, et al. Twelve novel mutations in the SLC26A3 gene in 17 sporadic cases of congenital chloride diarrhea. J Pediatr Gastroenterol Nutr. 2017;65:26–30.

5. Wedenoja S, Pekansaari E, Höglund P, Mäkelä S, Holmberg C, Kere J. Update on SLC26A3 mutations in congenital chloride diarrhea. Hum Mutat. 2011;32:715–22.

Cited by 6 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. 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

2. 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

3. Prenatal and Postnatal Manifestations of Congenital Chloride Diarrhea Due to a Heterozygote Variant of the SLC26A3 Gene: A Case Report;Frontiers in Pediatrics;2021-12-20

4. Segmental maternal uniparental disomy of chromosome 7q in a patient with congenital chloride diarrhea;Journal of Clinical Laboratory Analysis;2021-06-04

5. Congenital chloride diarrhea clinical features and management: a systematic review;Pediatric Research;2020-11-10

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