A Novel VPS33B Mutation Causing a Mild Phenotype of Arthrogryposis, Renal dysfunction, and Cholestasis Syndrome.
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DOI: 10.1097/mpg.0000000000002306
Abstract: JPGN Volume 69, N CASE A 14-month-old boy with a history of moderate sensorineural hearing loss, language delay, and gross motor delay presents with several months of severe pruritus. His family tried over the counter… read more here.
Keywords: renal dysfunction; normal mmol; arthrogryposis renal; dysfunction cholestasis ... See more keywords