Article
[Clinical features and MYO5B mutations of a family affected by microvillus inclusion disease].
Zhongguo dang dai er ke za zhi = Chinese journal of contemporary pediatrics - 1 Sept 2017
Cheng Ying, Liang Hong, Cai Na-Li, Guo Li, Huang Yu-Ge, Song Yuan-Zong
Abstract excerpt
Microvillus inclusion disease (MVID) is an autosomal recessive disorder caused by biallelic mutations in the MYO5B or STX3 gene. Refractory diarrhea and malabsorption are the main clinical manifestations. The aim of this study was to investigate the clinical features and MYO5B gene mutations of an infant with MVID. A 21-day-old female infant was referred to the hospital with the complaint of diarrhea for 20 days....
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