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

Abstract excerpt

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 retrospectively reviewed the clinical data of four children from unrelated families, who presented with neonatal-onset,...

Topics

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• Asia, Eastern
• Chloride-Bicarbonate Antiporters
• Diarrhea
• Infant, Newborn
• Metabolism, Inborn Errors