Concepedia

A Novel Mutation in FGFR3 Causes Camptodactyly, Tall Stature, and Hearing Loss (CATSHL) Syndrome

Reha M. Toydemir, Anna E. Brassington, Pınar Bayrak‐Toydemir, Patrycja A. Krakowiak, Lynn B. Jorde, Frank G. Whitby, Nicola Longo, David Viskochil, John C. Carey, Michael J. Bamshad

The American Journal of Human Genetics · 2006 · 158 citations · 15 references

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15

Fibroblast Growth Factor Receptor 3 Is a Negative Regulator of Bone Growth

Anthony Wynshaw‐Boris, Fen Zhou, Ann Kuo et al. · Cell · 1996 · 1.1K citations · Full text

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Skeletal overgrowth and deafness in mice lacking fibroblast growth factor receptor 3

Jennifer S. Colvin, Barbara A. Bohne, Gary W. Harding et al. · Nature Genetics · 1996 · 869 citations

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A unique point mutation in the fibroblast growth factor receptor 3 gene (FGFR3) defines a new craniosynostosis syndrome.

Maximilian Muenke, Karen W. Gripp, Donna M. McDonald‐McGinn et al. · PubMed · 1997 · 394 citations

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Structure of the FGF Receptor Tyrosine Kinase Domain Reveals a Novel Autoinhibitory Mechanism

Moosa Mohammadi, Joseph Schlessinger, Stevan R. Hubbard · Cell · 1996 · 374 citations · Full text

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A Transcript Map of the Newly Defined 165 kb Wolf-Hirschhorn Syndrome Critical Region

Tracy J. Wright, Darrell Ricke, Karen Denison et al. · Human Molecular Genetics · 1997 · 237 citations · Full text

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