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Genomic screening of fibroblast growth-factor receptor 2 reveals a wide spectrum of mutations in patients with syndromic craniosynostosis.

Abstract:

It has been known for several years that heterozygous mutations of three members of the fibroblast growth-factor-receptor family of signal-transduction molecules-namely, FGFR1, FGFR2, and FGFR3-contribute significantly to disorders of bone patterning and growth. FGFR3 mutations, which predominantly cause short-limbed bone dysplasia, occur in all three major regions (i.e., extracellular, transmembrane, and intracellular) of the protein. By contrast, most mutations described in FGFR2 localize t...

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Publication status:
Published

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Publisher copy:
10.1086/338758

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Journal:
American journal of human genetics More from this journal
Volume:
70
Issue:
2
Pages:
472-486
Publication date:
2002-02-01
DOI:
EISSN:
1537-6605
ISSN:
0002-9297

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