Associated Papers
Pathogenic variation underlying rare diseases in an Arab population: Implications for screening programs.
Jain R et al.
Genetics in Medicine Open, 2025
40893834 (PubMed )
Supplement: mmc1.xlsx › Supplementary_Table_1
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
Combining exome/genome sequencing with data repository analysis reveals novel gene-disease associations for a wide range of genetic disorders.
Bertoli-Avella AM et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2021
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