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. 2020 Dec 4;29(22):3662–3678. doi: 10.1093/hmg/ddaa258

Figure 1.

Figure 1

WBP11 variants and vertebral segmentation defects in selected individuals. (A) Schematic representation of the WBP11 open reading frame and cDNA (bottom) with variants and protein structure (top). PRR, proline-rich region. (B) Patient 1A has C3-C4 (arrowhead), C6-C7 fusion/block vertebrae (not shown) and bilateral omovertebral bones from C5 (asterisk). (C) Patient 1B has T12 butterfly vertebrae (arrowhead) and congenital scoliosis. Patient 2 has C6-C7 fusion (D, arrowhead) and T2 left hemifusion (E, asterisk) and T1, T4 butterfly vertebrae (E, arrowheads).