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A very rare case report of glycogen storage disease type IXc with novel PHKG2 variants.
Shao Y, Li T, Jiang M, Xu J, Huang Y, Li X, Zheng R, Liu L. Shao Y, et al. BMC Pediatr. 2022 May 12;22(1):267. doi: 10.1186/s12887-021-03055-7. BMC Pediatr. 2022. PMID: 35549678 Free PMC article.
BACKGROUND: Pathogenic mutations in the PHKG2 are associated with a very rare disease-glycogen storage disease IXc (GSD-IXc)-and are characterized by severe liver disease. ...
BACKGROUND: Pathogenic mutations in the PHKG2 are associated with a very rare disease-glycogen storage disease IXc …