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- W2105442008 abstract "Abstract Objective: A long-surviving thanatophoric dysplasia type I patient to age of 6 years is presented. Results and Conclusions: Molecular studies revealed a heterozygous point mutation, S249C in the fibroblast growth factor receptor 3 gene. Most of the clinical course was similar to previous reports, including hearing loss and acanthosis nigricans. Abnormal urinary excretion of dicarboxylic acids and 3-hydroxydicarboxylic acids was observed. We hypothesize that this was a consequence of the FGFR3 mutation." @default.
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- W2105442008 date "2002-03-01" @default.
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- W2105442008 title "Clinical and Biochemical Findings of a Patient With Thanatophoric Dysplasia Type I: Additional Finding of Dicarboxylic Aciduria" @default.
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- W2105442008 doi "https://doi.org/10.1597/1545-1569(2002)039<0246:cabfoa>2.0.co;2" @default.
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