Associated Papers
Review of published 467 achondroplasia patients: clinical and mutational spectrum.
Zhang X et al.
Orphanet Journal of Rare Diseases, 2024
Typical achondroplasia secondary to a unique insertional variant of FGFR3 with in vitro demonstration of its effect on FGFR3 function.
Meyer AN et al.
American Journal of Medical Genetics. Part A, 2021
Ser217Cys mutation in the Ig II domain of FGFR3 in a Chinese family with autosomal dominant achondroplasia.
Zhang SR et al.
Chinese Medical Journal, 2007
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