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

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 retrospe...

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Detalles Bibliográficos
Autores principales: Yan, Weihui, Xiao, Yongtao, Zhang, Yunyi, Tao, Yijing, Cao, Yi, Liu, Kunhui, Cai, Wei, Wang, Ying
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2021
Materias:
Research
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8427875/
https://www.ncbi.nlm.nih.gov/pubmed/34503561
http://dx.doi.org/10.1186/s13023-021-01995-y

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