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Bad bones, absent smell, selfish testes: the pleiotropic consequences of human FGF receptor mutations.

Abstract:

The discovery in 1994 that highly specific mutations of fibroblast growth factor (FGF) receptor 3 caused the most common form of human short-limbed dwarfism, achondroplasia, heralded a new era in FGF receptor (FGFR) biology. A decade later, the purpose of this review is to survey how the study of humans with FGFR mutations continues to provide insights into FGFR function in health and disease, and the clinical applications of these findings. Amongst the most interesting recent discoveries hav...

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Publication status:
Published

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Journal:
Cytokine and growth factor reviews
Volume:
16
Issue:
2
Pages:
187-203
Publication date:
2005-04-01
DOI:
EISSN:
1879-0305
ISSN:
1359-6101
Source identifiers:
119731

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