Monogenic mutations in four cases of neonatal-onset watery diarrhea and a mutation review in East Asia

Monogenic mutations in four cases of neonatal-onset watery diarrhea and a mutation review in East Asia

Abstract Background Infants with neonatal-onset diarrhea present with intractable diarrhea in the first few weeks of life. A monogenic mutation is one of the disease etiologies and the use of next-generation sequencing (NGS) has made it possible to screen patients for their mutations. Main body We r...

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Bibliographic Details
Main Authors: Weihui Yan, Yongtao Xiao, Yunyi Zhang, Yijing Tao, Yi Cao, Kunhui Liu, Wei Cai, Ying Wang
Format: Article
Language:English
Published: BMC 2021-09-01
Series:Orphanet Journal of Rare Diseases
Subjects:
Microvillus inclusion disease
Congenital chloride diarrhea
Congenital tufting enteropathy
Neonatal-onset diarrhea
Whole-exome sequencing
Monogenetic mutation
Online Access:https://doi.org/10.1186/s13023-021-01995-y

Internet

https://doi.org/10.1186/s13023-021-01995-y

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