Ontology highlight
ABSTRACT:
SUBMITTER: Dattolo P
PROVIDER: S-EPMC3669930 | biostudies-literature | 2013
REPOSITORIES: biostudies-literature
Dattolo Pietro P Allinovi Marco M Iatropoulos Paraskevas P Michelassi Stefano S
BMJ case reports 20130527
Wilms' tumour suppressor gene-1 (WT1) plays a critical role in kidney development and function. Several WT1 mutations can occur in exons 7, 8 and 9 and they have been associated with Denys-Drash syndrome. WT1 mutations of intron 9 have been reported too and associated with Frasier syndrome. However, overlapping and incomplete forms of both the syndromes have been described. We report a novel sequence variant (c.1012A>T) of the WT1 gene in exon 6 (p.R338X) in a 18-year-old girl with a history of ...[more]