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Published in 2023 at "BMJ Case Reports"
DOI: 10.1136/bcr-2023-254822
Abstract: A male infant born out of non-consanguineous marriage to a primigravida presented to us as his third hospitalisation with ichthyotic lesions all over the body, cholestatic jaundice, multiple joint contractures and a history of recurrent…
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Keywords:
dysfunction cholestasis;
cholestasis syndrome;
arthrogryposis renal;
renal dysfunction ... See more keywords