Pfeiffer mutation in an Apert patient: how wide is the spectrum of variability due to mutations in the FGFR2 gene?
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D000168:Acrocephalosyndactylia / Q000235:genetics*; D001938:Brazil; D002648:Child; D005091:Exons; D005260:Female; D006801:Humans; D007223:Infant; D009154:Mutation; D010641:Phenotype; D018807:Polymorphism, Single-Stranded Conformational; D017468:Receptors, Fibroblast Growth Factor / Q000235:genetics*; D017422:Sequence Analysis, DNA
D017468:Receptors, Fibroblast Growth Factor