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Pfeiffer syndrome

Pfeiffer syndrome (MIM 100600) Mutations In the gene encoding fibroblast growth receptor 1 (FGFR1). [Pg.551]

A. F. Jabs, E.W. FGFR2 Exon Ilia and IIIc mutations in Crouzon, Jackson-Weiss, and Pfeiffer syndromes evidence for missense changes, insertions, and a deletion due to alternative RNA splicing. Am. J. Hum. Genet., 58, 491-498 (1996)... [Pg.592]

The Pfeiffer, Jackson-WeIss, and Crouzon syndromes are cran-losynostosls syndromes cranlosynostosis Is a term signifying pre- ... [Pg.551]

Stevens-Johnson syndrome Toxic epidermal necrolysis (1998) Pfeiffer CM +, JAMA 279, 1613 Ulcerations (<2%)... [Pg.52]

B. Malcolm, S. Winter, R.M. Oldridge, M. Slaney, S.F. et al. Identical mutations in the FGFR2 gene cause both Pfeiffer and Crouzon syndrome phenotypes. Nat. Genet., 9, 173-176 (1995)... [Pg.592]

See other pages where Pfeiffer syndrome is mentioned: [Pg.568]    [Pg.568]    [Pg.538]    [Pg.539]    [Pg.571]    [Pg.572]    [Pg.592]    [Pg.593]    [Pg.568]    [Pg.568]    [Pg.538]    [Pg.539]    [Pg.571]    [Pg.572]    [Pg.592]    [Pg.593]    [Pg.163]    [Pg.642]    [Pg.98]    [Pg.592]   
See also in sourсe #XX -- [ Pg.551 ]



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