DPAGT1-CDG: report of a patient with fetal hypokinesia phenotype.

  title={DPAGT1-CDG: report of a patient with fetal hypokinesia phenotype.},
  author={Ignacio Arroyo Carrera and Gert Matthijs and Bel{\'e}n P{\'e}rez and Celia P{\'e}rez Cerd{\'a}},
  journal={American journal of medical genetics. Part A},
  volume={158A 8},
Congenital disorders of glycosylation (CDG) are due to either defects in the synthesis of the glycan moiety of glycoproteins or glycolipids and in the attachment of the glycans to proteins and lipids. Some 50 CDG have been identified. They represent a challenge for clinicians because most are multisystem diseases with a heterogeneous spectrum of clinical manifestations with involvement of any organ and system. We report on a patient with a mutation in the glycosyltransferase encoded by the… CONTINUE READING
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