Congenital chloride diarrhea in a Japanese neonate with a novel SLC26A3 mutation

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Published inPediatrics international Vol. 62; no. 11; pp. 1294 - 1296
Main Authors Konishi, Ken‐ichiro, Mizuochi, Tatsuki, Takeuchi, Ichiro, Arai, Katsuhiro, Yamamoto, Ken
Format Journal Article
LanguageEnglish
Published Australia Blackwell Publishing Ltd 01.11.2020
Subjects
Online AccessGet full text
ISSN1328-8067
1442-200X
1442-200X
DOI10.1111/ped.14333

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Author Mizuochi, Tatsuki
Arai, Katsuhiro
Yamamoto, Ken
Konishi, Ken‐ichiro
Takeuchi, Ichiro
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Cites_doi 10.1038/gim.2015.30
10.1016/j.jpeds.2019.07.039
10.12659/AJCR.903433
10.1172/JCI108094
10.1016/0002-9378(74)90093-3
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Issue 11
Keywords polyhydramnios
amniotic fluid analysis
fetal diagnosis
dilated bowel loops
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References 2019; 214
1975; 56
1974; 119
2015; 17
2017; 18
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References_xml – volume: 119
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  article-title: Composition of the amniotic fluid and maternal serum in pregnancy
  publication-title: Am. J. Obstet. Gynecol.
– volume: 214
  start-page: 151
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  article-title: Clinical features, molecular genetics, and long‐term outcome in congenital chloride diarrhea: a nationwide study in Japan
  publication-title: J. Pediatr.
– volume: 17
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  article-title: Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology
  publication-title: Genet. Med.
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  article-title: Colonic electrolyte transport in health and in congenital chloride diarrhea
  publication-title: J. Clin. Invest.
– volume: 18
  start-page: 707
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  article-title: Congenital chloride diarrhea (CCD): a case report of CCD suspected by prenatal ultrasonography and magnetic resonance imaging (MRI)
  publication-title: Am. J. Case Rep.
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SubjectTerms amniotic fluid analysis
Diarrhea
dilated bowel loops
fetal diagnosis
Pediatrics
polyhydramnios
Title Congenital chloride diarrhea in a Japanese neonate with a novel SLC26A3 mutation
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