Published in Am J Hum Genet on August 01, 1995
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Identical mutations in the FGFR2 gene cause both Pfeiffer and Crouzon syndrome phenotypes. Nat Genet (1995) 2.49
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Achondroplasia is defined by recurrent G380R mutations of FGFR3. Am J Hum Genet (1995) 2.43
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A recurrent mutation in the tyrosine kinase domain of fibroblast growth factor receptor 3 causes hypochondroplasia. Nat Genet (1995) 2.30
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Identification of the gene for oral-facial-digital type I syndrome. Am J Hum Genet (2001) 2.07
Multiplex PCR of three dinucleotide repeats in the Prader-Willi/Angelman critical region (15q11-q13): molecular diagnosis and mechanism of uniparental disomy. Hum Mol Genet (1993) 2.02
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