A very rare case report of glycogen storage disease type IXc with novel PHKG2 variants.

Yongxian ShaoTaolin LiMinyan JiangJianan XuYonglan HuangXiuzhen LiRuidan ZhengLi Liu

Published in: BMC pediatrics (2022)

These findings expand the gene spectrum and contribute to the interpretation of clinical presentations of these two novel PHKG2 mutations.

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