A female patient with GSD IXc developing multiple and recurrent hepatocellular carcinoma: a case report and literature review

A female patient with GSD IXc developing multiple and recurrent hepatocellular carcinoma: a case report and literature review

Glycogen storage disease type IX (GSD IX), the most common form of GSD, is caused by a defect in phosphorylase kinase (PhK). We describe the case of a female patient with GSD IXc harboring a homozygous mutation in PHKG2 (NM_000294.3; PHKG2 (c.280_282delATC (p. I94del)) definitively diagnosed using t...

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Bibliographic Details
Main Authors: Jun Kido, Hiroshi Mitsubuchi, Takehisa Watanabe, Keishin Sugawara, Hideo Sasai, Toshiyuki Fukao, Kimitoshi Nakamura
Format: Article
Language:English
Published: Nature Publishing Group 2021-12-01
Series:Human Genome Variation
Online Access:https://doi.org/10.1038/s41439-021-00172-8

Internet

https://doi.org/10.1038/s41439-021-00172-8

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