Craniosynostosis associated with FGFR3 pro250arg mutation results in a range of clinical presentations including unisutural sporadic craniosynostosis.

Reardon, W

Craniosynostosis associated with FGFR3 pro250arg mutation results in a range of clinical presentations including unisutural sporadic craniosynostosis. [electronic resource] - Journal of medical genetics Aug 1997 - 632-6 p. digital

Publication Type: Journal Article; Research Support, Non-U.S. Gov't

0022-2593

10.1136/jmg.34.8.632 doi


Acrocephalosyndactylia--genetics
Adult
Arginine--genetics
Child
Child, Preschool
Craniosynostoses--genetics
Female
Fibroblast Growth Factors--genetics
Humans
Intellectual Disability--genetics
Male
Mutation
Proline--genetics
Protein-Tyrosine Kinases
Receptor, Fibroblast Growth Factor, Type 3
Receptors, Fibroblast Growth Factor--genetics