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Crouzon syndrome: previously unrecognized deletion, duplication, and point mutation within FGFR2 gene.
Institut für Humangenetik, Justus-Liebig-Universität, Giessen, Germany.
PMID: 8956050 [PubMed - indexed for MEDLINE]
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Cited by 2 PubMed Central articles
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Mutations that cause osteoglophonic dysplasia define novel roles for FGFR1 in bone elongation.
White KE, Cabral JM, Davis SI, Fishburn T, Evans WE, Ichikawa S, Fields J, Yu X, Shaw NJ, McLellan NJ, et al.
Am J Hum Genet. 2005 Feb; 76(2):361-7. Epub 2004 Dec 28.
[Am J Hum Genet. 2005]
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A novel mutation (a886g) in exon 5 of FGFR2 in members of a family with Crouzon phenotype and plagiocephaly.
Steinberger D, Collmann H, Schmalenberger B, Müller U.
J Med Genet. 1997 May; 34(5):420-2.
[J Med Genet. 1997]