Temporal Lobe Malformations in Achondroplasia: Expanding the Brain Imaging Phenotype Associated withFGFR3-Related Skeletal Dysplasias
Author:
Publisher
American Society of Neuroradiology (ASNR)
Subject
Clinical Neurology,Radiology Nuclear Medicine and imaging
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3. Achondroplasia is defined by recurrent G380R mutations of FGFR3;Bellus;Am J Hum Genet,1995
4. Graded activation of fibroblast growth factor receptor 3 by mutations causing achondroplasia and thanatophoric dysplasia
5. The Molecular and Genetic Basis of Fibroblast Growth Factor Receptor 3 Disorders: The Achondroplasia Family of Skeletal Dysplasias, Muenke Craniosynostosis, and Crouzon Syndrome with Acanthosis Nigricans
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