Changes in fgfr2 amino-acid residue asn549 lead to crouzon and pfeiffer syndrome with hydrocephalus

HIGHLIGHTS

  • who: Caroline Apra1 from the Department of Neurosurgery, Hôpital Necker-Enfants Malades, Paris, France-Centre de référence have published the Article: Changes in FGFR2 amino-acid residue Asn549 lead to Crouzon and Pfeiffer syndrome with hydrocephalus, in the Journal: (JOURNAL)
  • what: On a phenotypical point of view, the three patients the authors report present with typical Crouzon or Pfeiffer syndrome: exorbitism, maxillary retrusion, premature suture fusion, and one patient with hand abnormalities.

SUMMARY

    Craniosynostosis is a cranial malformation occurring in approximately 1 in 2500 live births. Common variable . . .

     

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