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单词 fryns syndrome
释义

Fryns syndrome


Fryns syndrome

A rare autosomal dominant disorder characterized by diaphragmatic hernia and facial, limb, cardiac, lung, and brain anomalies. The disease is often fatal in infancy; survivors may have cognitive deficits.

Fryns,

J.P., Belgian physician. Fryns syndrome - genetic disorder resulting in limb abnormalities and pulmonary defects.
AcronymsSeeFRNS
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  • glycogenous
  • glycogen phosphorolase
  • glycogen phosphorylase
  • glycogen phosphorylase-2
  • glycogen phosphorylase a
  • glycogen phosphorylase-activating hormone
  • glycogen phosphorylase isoenzyme bb
  • glycogen phosphorylase, muscle
  • glycogen phosphorylase, muscle form
  • glycogen primer
  • glycogen starch synthase
  • glycogen(starch) synthase
  • glycogen (starch) synthase, liver
  • glycogen (starch) synthase, muscle
  • glycogen storage disease
  • glycogen-storage disease
  • glycogen storage disease 0
  • glycogen storage disease 0b
  • glycogen storage disease ia
  • glycogen storage disease ib

 

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