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

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

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...

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Hlavní autoři: Kan, S, Elanko, N, Johnson, D, Cornejo-Roldan, L, Cook, J, Reich, E, Tomkins, S, Verloes, A, Twigg, SR, Rannan-Eliya, S, McDonald-McGinn, D, Zackai, E, Wall, SA, Muenke, M, Wilkie, A
Médium: Journal article
Jazyk:English
Vydáno: 2002

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