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A bi-allelic missense change c.638A > G in matrix metalloproteinase 15 in a patient with progressive familial intrahepatic cholestasis without cardiac anomalies.

Sheela NampoothiriJeanne Maria DsouzaDhanya YesodharanKatta Mohan GirishaMalini EapenSajitha Sivasankaran NairBhanu Vikraman PillaiPeriyasamy Radhakrishnan
Published in: Clinical genetics (2022)
Keyphrases
  • multiple sclerosis
  • case report
  • intellectual disability
  • left ventricular
  • early onset
  • drug induced
  • heart failure
  • atrial fibrillation