J. Szabo

A novel skeletal dysplasia with developmental delay and acanthosis nigricans is caused by a Lys650Met mutation in the fibroblast growth factor receptor 3 gene.

D. Donoghue, M. Bamshad, E. Jabs, 1999, American journal of human genetics.

Identical mutations in three different fibroblast growth factor receptor genes in autosomal dominant craniosynostosis syndromes

E. Zackai, M. Muenke, G. Bellus, 1996, Nature Genetics.

Mutations in fibroblast growth-factor receptor 3 in sporadic cases of achondroplasia occur exclusively on the paternally derived chromosome.

A. Munnich, I. Kaitila, B. Sykes, 1998, American journal of human genetics.

Mutations of CTSK Result in Pycnodysostosis via a Reduction in Cathepsin K Protein

Joie Davis, M. Johnson, D. Wilkin, 1999, Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research.

Hypochondroplasia: Molecular Analysis of the Fibroblast Growth Factor Receptor 3 Gene

I. Kaitila, A. Aylsworth, G. Bellus, 1996, Annals of the New York Academy of Sciences.