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Prenatal Diagnosis of Congenital Chloride Diarrhea by Whole Exome Sequencing in Four Chinese Families and Prenatal Genotype-phenotype Association Study

Overview
Journal World J Pediatr
Specialty Pediatrics
Date 2022 Nov 23
PMID 36417080
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References
1.
Hoglund P, Haila S, Socha J, TOMASZEWSKI L, Saarialho-Kere U, Karjalainen-Lindsberg M . Mutations of the Down-regulated in adenoma (DRA) gene cause congenital chloride diarrhoea. Nat Genet. 1996; 14(3):316-9. DOI: 10.1038/ng1196-316. View

2.
Lechner S, Ruemmele F, Zankl A, Lausch E, Huber W, Mihatsch W . Significance of molecular testing for congenital chloride diarrhea. J Pediatr Gastroenterol Nutr. 2011; 53(1):48-54. DOI: 10.1097/MPG.0b013e31820bc856. View

3.
Makela S, Kere J, Holmberg C, Hoglund P . SLC26A3 mutations in congenital chloride diarrhea. Hum Mutat. 2002; 20(6):425-38. DOI: 10.1002/humu.10139. View

4.
Konishi K, Mizuochi T, Honma H, Etani Y, Morikawa K, Wada K . A novel de novo SLC26A3 mutation causing congenital chloride diarrhea in a Japanese neonate. Mol Genet Genomic Med. 2020; 8(11):e1505. PMC: 7667310. DOI: 10.1002/mgg3.1505. View

5.
David E, Torok D, Farkas K, Nagy N, Horvath E, Kiss Z . Genetic investigation confirmed the clinical phenotype of congenital chloride diarrhea in a Hungarian patient: a case report. BMC Pediatr. 2019; 19(1):16. PMC: 6330408. DOI: 10.1186/s12887-019-1390-1. View