On CALFAN syndrome: report of a patient with a novel variant in SCYL1 gene and recurrent respiratory failure
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DOI: 10.1038/s41436-018-0389-6
Abstract: To the Editor: We read with great interest the research article published by Lenz and colleagues on CALFAN (low γglutamyl-transferase cholestasis, acute liver failure, and neurodegeneration) syndrome, highlighting the existence of a phenotype with prominent,… read more here.
Keywords: scyl1 gene; variant scyl1; recurrent episodes; failure ... See more keywords