Article
Two cases of microvillus inclusion disease caused by MYO5B deficiency with prenatal abnormalities.
Prenatal diagnosis - 1 Jan 2022
Lu Jiaqi, Qi Yiming, Ding Hongke, Yin Aihua
Abstract excerpt
BACKGROUNDS: Microvillus inclusion disease (MVID) characterizes as intractable life-threatening watery diarrhea malnutrition after birth. MATERIALS & METHODS: Here we describe two patients with prenatal ultrasound findings of bowel dilation or increased amniotic fluid volume presented intractable diarrhea after birth. Exome sequencing and Intestinal biopsy were performed for the patients and their parents to...
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