Associated Papers
Deciphering the phenotypic spectrum associated with MIA3-related odontochondrodysplasia.
Abdel-Hamid MS et al.
Journal of Human Genetics, 2025
A novel mutation in collagen transport protein, MIA3 gene, detected in a patient with clinical symptoms of Ehlers-Danlos hypermobile syndrome.
Junkiert-Czarnecka A et al.
Advances in Clinical and Experimental Medicine : Official Organ Wroclaw Medical University, 2023
MIA3 Splice Defect in Cane Corso Dogs with Dental-Skeletal-Retinal Anomaly (DSRA).
Christen M et al.
Genes, 2021
Loss of TANGO1 Leads to Absence of Bone Mineralization.
Guillemyn B et al.
Jbmr Plus, 2021
Biallelic TANGO1 mutations cause a novel syndromal disease due to hampered cellular collagen secretion.
Lekszas C et al.
Elife, 2020
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