Another mutation that results in the substitution of an unpaired cysteine residue in the extracellular domain of FGFR3 in thanatophoric dysplasia type I.
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D. Rimoin | R. Shiang | D. Cohn | Y. Z. Zhu | J. Wasmuth | P. Tavormina | Daniel H. Cohn | Ya-Zhen Zhu | Rita Shiang | John J. Wasmuth | John J. Wasmuth | R. Shiang | Daniel H. Cohn