FGFR3-related short limb skeletal dysplasia

Definition:

FGFR3-related short limb skeletal dysplasias are a group of dwarfisms ranging from mild to lethal at the severe end. FGFR3 mutations cause these conditions by disrupting endochondral bone growth.

References:

[1]. I McIntosh, et al. The pleiotropic effects of fibroblast growth factor receptors in mammalian development. Cell Struct Funct. 2000 Apr;25(2):85-96. [Content Brief]

[2]. M Michael Cohen Jr, et al. Some chondrodysplasias with short limbs: molecular perspectives. Am J Med Genet. 2002 Oct 15;112(3):304-13. [Content Brief]

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