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1:
Nat Genet.
1995 Feb;9(2):108.
Links
Comment in:
Nat Genet. 1995 Feb;9(2):101-3.
FGFR2 mutations in Pfeiffer syndrome.
Lajeunie E
,
Ma HW
,
Bonaventure J
,
Munnich A
,
Le Merrer M
,
Renier D
.
PMID: 7719333 [PubMed - indexed for MEDLINE]
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Identical mutations in the FGFR2 gene cause both Pfeiffer and Crouzon syndrome phenotypes.
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Trp290Cys mutation in exon IIIa of the fibroblast growth factor receptor 2 (FGFR2) gene is associated with Pfeiffer syndrome.
[Hum Genet. 1997]
Review
[From gene to disease; craniosynostosis syndromes due to FGFR2-mutation]
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Review
Novel FGFR2 mutations in Crouzon and Jackson-Weiss syndromes show allelic heterogeneity and phenotypic variability.
[Hum Mol Genet. 1995]
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