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SYNDROME MUENKE [1 record]

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Record 1 2019-12-05

English

Subject field(s)
  • Human Diseases - Various
  • Genetics
  • Musculoskeletal System
CONT

Muenke syndrome is a condition characterized by the premature closure of the coronal suture of the skull (coronal craniosynostosis) during development. This affects the shape of the head and face. Other variable features include abnormalities of the hands or feet, hearing loss and developmental delay. Muenke syndrome is caused by mutations in the FGFR3 gene. It is inherited in an autosomal dominant pattern.

French

Domaine(s)
  • Maladies humaines diverses
  • Génétique
  • Appareil locomoteur (Médecine)
CONT

Le syndrome de Muenke se caractérise par la fermeture prématurée de la suture coronale du crâne au cours du développement, ce qui retentit sur la forme du crâne et du visage [...]

OBS

Une mutation dans [le gène] FGFR3 [...] a également été identifiée dans [...] le syndrome de Muenke [...]

Spanish

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