Figure 3.

Schematic plan of SH3PXD2B (TKS4) protein showing all mutations identified to date and their location in relation to domains defined by PROSITE ( Note the extent of the deletion identified in this family. A deletion of the entire encoding SH3PXD2B gene has also been reported in another affected family [7].

Bendon et al. BMC Medical Genetics 2012 13:104   doi:10.1186/1471-2350-13-104
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