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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Foilsithe in:J Clin Lab Anal
Main Authors: Lyu, Juanjuan, Huang, Zhuo, Chen, Hongbo, Sun, Xiaomei, Liu, Ying, Yuan, Chuanjie, Ye, Li, Yu, Dan, Wu, Jin
Formáid: Artigo
Teanga:Inglês
Foilsithe: John Wiley and Sons Inc. 2021
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Research Articles
Rochtain Ar Líne:https://ncbi.nlm.nih.gov/pmc/articles/PMC8274990/
https://ncbi.nlm.nih.gov/pubmed/34085718
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/jcla.23862
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