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TY  - GEN
AU  - McKusick, V.A.
TI  - Mendelian Inheritance in Man. A Catalog of Human Genes and Genetic Disorders
PY  - 1994///
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AU  - Cohen, M.M.
TI  - Pfeiffer syndrome update, clinical subtypes and guidelines for differential diagnosis
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TI  - Linkage of Pfeiffer syndrome to chromosome 8 centromere and evidence for genetic heterogeneity
JO  - Hum Mol. Genet.
PY  - 1994///
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TI  - Mutations in FGFR1 and FGFR2 cause familial and sporadic Pfeiffer syndrome
JO  - Hum. Mol. Genet.
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TI  - A common mutation in the fibroblast growth factor receptor 1 gene in Pfeiffer syndrome
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AU  - Lajeunie, E.
TI  - FGFR2 mutations in Pfeiffer syndrome
JO  - Nature Genet.
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TY  - JOUR
AU  - Rutland, P.
TI  - Identical mutations in the FGFR2 gene cause both Pfeiffer and Crouzon syndrome phenotypes
JO  - Nature Genet.
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AU  - Meyers, G.A.
TI  - FGFR2 Exon IIIa and IIIc mutations in Crouzon, Jackson-Weiss and Pfeiffer syndromes: evidence for missense changes, insertions and a deletion due to alternative RNA splicing
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TI  - Apert syndrome results from localized mutations of FGFR2 and is allelic with Crouzon syndrome
JO  - Nature Genet.
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AU  - Phillips, H.A.
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TY  - JOUR
AU  - Shiang, R.
TI  - Mutations in the transmembrane domain of FGFR-3 cause the most common genetic form of dwarfism, achondroplasia
JO  - Cell
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TY  - JOUR
AU  - Rousseau, F.
TI  - Mutations in the gene encoding fibrobiast growth factor receptor-3 in achondroplasia
JO  - Nature
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AU  - Tavormina, P.L.
TI  - Thanatophoric dysplasia (types I & II) caused by distinct mutations in fibroblast growth factor receptor 3
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AU  - Bellus, G.A.
TI  - A recurrent mutation in the tyrosine kinase domain of fibroblast growth factor receptor 3 causes hypochondroplasia
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AU  - Meyers, G.A.
TI  - Fibroblastgrowthfactorreceptor 3 (FGFR3) transmembrane mutation in Crouzon syndrome with acanthosis nigricans
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TI  - Constitutive activation of fibroblast growth factor receptor-2 by a point mutation associated with Crouzon syndrome
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TI  - Graded activation of fibroblast growth factor receptor 3 by mutations causing achondroplasia and thanatophoric dysplasia
JO  - Nature Genet.
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AU  - Harding, G.W.
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AU  - Ornitz, D.M.
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AU  - Deng, C.
AU  - Wynshaw-Boris, A.
AU  - Zhou, F.
AU  - Kuo, A.
AU  - Leder, P.
TI  - Fibroblast growth factor receptor 3 is a negative regulator of bone growth
JO  - Cell
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AU  - Williams, L.T.
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JO  - Cell
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AU  - Peters, K.
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AU  - Williams, L.T.
TI  - Unique expression pattern of the FGF receptor 3 gene during mouse organogenesis
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TY  - JOUR
AU  - Li, X.
TI  - Effect on splicing of a silent FGFR2 mutation in Crouzon syndrome
JO  - Nature Genet.
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TY  - JOUR
AU  - Tavormina, P.L.
TI  - Another mutation that results in the substitution of an unpaired cysteine residue in the extracellular domain of FGFR3 in thanatophoric dysplasia
JO  - Hum. Mol. Genet.
PY  - 1995///
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TY  - JOUR
AU  - Rousseau, F.
TI  - Missense FGFR3 mutations create cysteine residues in thanatophoric dwarfism type I (TDI)
JO  - Hum. Mol. Genet
PY  - 1996///
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