Expanding the variability of the ADPKD-GANAB clinical phenotype in a family of Italian ancestry
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DOI: 10.1007/s40620-021-01131-w
Abstract: Causative mutations in the GANAB gene have been described in only 14 families, 9 diagnosed with late-onset Autosomal Dominant Polycystic Kidney Disease (ADPKD) and 5 with Autosomal Dominant Polycystic Liver Disease (ADPLD). Diagnosis of ADPKD… read more here.
Keywords: adpkd; ganab variant; family; adpkd ganab ... See more keywords