Associated Papers
A bi-allelic missense change c.638A > G in matrix metalloproteinase 15 in a patient with progressive familial intrahepatic cholestasis without cardiac anomalies.
Nampoothiri S et al.
Clinical Genetics, 2023
Bi-allelic null variant in matrix metalloproteinase-15, causes congenital cardiac defect, cholestasis jaundice, and failure to thrive.
Abdelrahman HA et al.
Clinical Genetics, 2022
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