Genotype-phenotype analysis in Apert syndrome suggests opposite effects of the two recurrent mutations on syndactyly and outcome of craniofacial surgery-Reference-Cited by-同舟云学术

Genotype-phenotype analysis in Apert syndrome suggests opposite effects of the two recurrent mutations on syndactyly and outcome of craniofacial surgery

Published:2000-02 Issue:2 Volume:57 Page:137-139
ISSN:0009-9163
Container-title:Clinical Genetics
language:en
Short-container-title:Clinical Genetics

Author:

Von Gernet S,Golla A,Ehrenfels Y,Schuffenhauer S,Fairley Jd

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Link

http://onlinelibrary.wiley.com/wol1/doi/10.1034/j.1399-0004.2000.570208.x/fullpdf

Reference10 articles.

1. Birth prevalence study of the Apert syndrome;Cohen;Am J Med Genet,1992

2. Apert syndrome results from localized mutations of FGFR2 and is allelic with Crouzon syndrome;Wilkie;Nat Genet,1995

3. De novo alu-element insertions in FGFR2 identify a distinct pathological basis for Apert syndrome;Oldridge;Am J Hum Genet,1999

4. Genotype-phenotype correlation for nucleotide substitutions in the IgII-IgIII linker of FGFR2;Oldridge;Hum Mol Genet,1997

5. Differential effects of FGFR2 mutations on syndactyly and cleft palate in Apert syndrome;Slaney;Am J Hum Genet,1996

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