Mild phenotypes of phosphoglycerate dehydrogenase deficiency by a novel mutation of PHGDH gene: Case report and literature review
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DOI: 10.1002/jdn.10236
Abstract: Phosphoglycerate dehydrogenase (PHGDH) deficiency is a rare autosomal recessive genetic disease of serine biosynthesis. Its typical features are congenital microcephaly, epileptic seizures, and psychomotor developmental delay. Here, we reported the first Chinese familial cases with… read more here.
Keywords: mutation phgdh; phgdh; deficiency; phosphoglycerate dehydrogenase ... See more keywords