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. Author manuscript; available in PMC: 2013 Jan 1.
Published in final edited form as: Hum Mutat. 2011 Nov 16;33(1):29–41. doi: 10.1002/humu.21636

Figure 1.

Figure 1

A summary of FGFR3 mutations discussed in the text. (A) A summary of human FGFR3 mutations discussed in the text. Mutations in available murine models are also indicated. TD - thanatophoric dysplasia; ACH- achondroplasia; HCH - hypochondroplasia; SADDAN -severe achondroplasia with developmental delay and acanthosis nigricans; PLSD-SD - platys-pondylic lethal skeletal dysplasia, San Diego type. (B) An overview of human FGFR3 protein structure with indicated positions of the mutations discussed in text. Ig1–3 extracellular immunoglobulin-like domains of FGFR3; TM - transmembrane domain; TK1–2 intracellular tyrosine kinase domains.