Segmental maternal uniparental disomy of chromosome 7q in a patient with congenital chloride diarrhea

Background: The main symptoms of congenital chloride diarrhea (CCD) main symptoms are watery diarrhea, hypochloremia, and hypokalemic metabolic alkalosis. Silver–Russell syndrome (SRS) is a heterogeneous imprinting disorder characterized by severe intrauterine retardation, poor postnatal growth, and...

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Bibliographic Details
Main Authors:	Chen, H. (Author), Huang, Z. (Author), Liu, Y. (Author), Lyu, J. (Author), Sun, X. (Author), Wu, J. (Author), Ye, L. (Author), Yu, D. (Author), Yuan, C. (Author)
Format:	Article
Language:	English
Published:	John Wiley and Sons Inc 2021
Subjects:	Article Bartter syndrome Base Sequence bicarbonate chloride antiporter case report chloride diarrhea Chloride-Bicarbonate Antiporters chromosome 7 chromosome 7q Chromosomes, Human, Pair 7 clinical article congenital chloride diarrhea Congenital chloride diarrhea congenital disorder diarrhea Diarrhea face dysmorphia failure to thrive female Female gene gene mutation genetics haploidy heterozygosity loss homozygosity human Humans hydramnios inborn error of metabolism indometacin infant Infant, Newborn loose feces male Male maternal inheritance Metabolism, Inborn Errors mUPD newborn nucleotide sequence pedigree Pedigree potassium chloride premature labor Sanger sequencing short stature Silver Russell syndrome Silver–Russell syndrome Silver-Russell Syndrome SLC26A3 SLC26A3 gene SLC26A3 protein, human sodium chloride Sulfate Transporters uniparental disomy Uniparental Disomy whole exome sequencing
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Segmental maternal uniparental disomy of chromosome 7q in a patient with congenital chloride diarrhea

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