Clinical utility gene card for: Progressive familial intrahepatic cholestasis type 1

  title={Clinical utility gene card for: Progressive familial intrahepatic cholestasis type 1},
  author={Emmanuel Gonzales and Anne Spraul and Emmanuel Jacquemin},
  journal={European Journal of Human Genetics},
1. DISEASE CHARACTERISTICS 1.1 Name of the disease (synonyms) 1. Progressive familial intrahepatic cholestasis type 1 (PFIC1). 2. FIC1 deficiency. Initially reported under the names: 3. Byler disease. 4. Greenland familial cholestasis. Byler syndrome refers to normal gamma-glutamyltransferase (GGT) level chronic intrahepatic cholestasis observed in children usually during the first year of life.1 Later, PFIC1 (Byler disease) and PFIC2 were identified.2–4 The term PFIC1 or FIC1 deficiency should… CONTINUE READING

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