Child-onset Hepatic Glycogenosis and Steatosis in PTEN-related Disorder
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Bannayan-Riley-Ruvalcaba syndrome is a rare PTEN-related disorder characterized by macrocephaly, intellectual disability, autism, hamartomatous intestinal polyps, and pigmentation of the glans penis. We describe a novel pathogenic variant of PTEN, c.48del (p.G... ...
