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Temporal and occipital lobe features in children with hypochondroplasia/FGFR3 gene mutation

✍ Scribed by Cristina M. Philpott, Elysa Widjaja, Charles Raybaud…


Book ID
120764736
Publisher
Springer-Verlag
Year
2013
Tongue
English
Weight
409 KB
Volume
43
Category
Article
ISSN
0301-0449

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The mapping of the achondroplasia locus to the short arm of chromosome 4 and the subsequent identification of a recurrent missense mutation (G380R) in the fibroblast growth factor receptor 3 (FGFR-3) gene has been followed by the detection of common FGFR-3 mutations in two clinically related disorde