Microvillus Inclusion Disease
What's New
Last Posted: Feb 26, 2023
- MYO5B-associated diseases: Novel liver-related variants and genotype-phenotype correlation.
Wang Li, et al. Liver international : official journal of the International Association for the Study of the Liver 2021 0 (2) 402-411 - Risk and Clinical Significance of Idiopathic Preterm Birth in Microvillus Inclusion Disease.
Leng Changsen, et al. Journal of clinical medicine 2021 0 (17) - Case Report: MYO5B Homozygous Variant c.2090+3A>T Causes Intron Retention Related to Chronic Cholestasis and Diarrhea.
Zheng Yu, et al. Frontiers in genetics 2022 0 872836 - Weibel-Palade Body Localized Syntaxin-3 Modulates Von Willebrand Factor Secretion From Endothelial Cells.
Schillemans Maaike, et al. Arteriosclerosis, thrombosis, and vascular biology 2018 6 - Microvillus inclusion disease
From NCATS Genetic and Rare Diseases Information Center
Content Summary
Selected Rare Diseases
- Alpha-1 Antitrypsin Deficiency
- Amyotrophic Lateral Sclerosis
- Brugada Syndrome
- Cerebral Palsy
- Cystic Fibrosis
- Duchenne Muscular Dystrophy
- Eclampsia
- Erythema Multiforme
- Familial Mediterranean Fever
- Fragile X Syndrome
- Gaucher Disease
- Glomerulonephritis
- Graves Disease
- Hemophilia
- Huntington Disease
- Microcephaly
- Myasthenia Gravis
- Phenylketonuria
- Retinitis Pigmentosa
- Severe Combined Immunodeficiency
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- Page last reviewed:Feb 1, 2023
- Page last updated:Sep 29, 2023
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