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. 2018 Jan 22;41(1):1–8. doi: 10.1590/1678-4685-GMB-2016-0162

Table 1. Comparison of the clinical features, due to sequence variants in the WNT10B gene, observed in participants of the present study and those reported previously.

Mutation Phenotypes Reference
p.Arg332Trp Syndactyly type I, postaxial partial syndactyly, flexion deformity of finger 2, Postaxial syndactyly (fingers 3–4) with almost fused nail beds, finger 5 clinodactyly, polydactyly type 1. Ugur and Tolun (2008)
p.Thr329Arg Syndactyly of radial ray and a rudimentary finger, pre-axial syndactyly of toe 1–2, post-axial syndactyly of toe 3–4 complex duplication of digit 3–4, Post-axial syndactyly of toe 3–4, absence of toe 2, digit 2 hypoplasia, agenesis of radial ray along with digit 1, pre-axial polydactyly type 1, Agenesis of distal ray at metacarpophalangeal joint level, fixed flexion contracture of both 4–5 digit at proximal interphalangeal joint level. Khan et al. (2012)
p.Lys388Glufs*36, p.Leu103Argfs*53 Central and pre- axial syndactyly, campodactyly, polydactyly, dysplastic (abnormal development) hands and cleft feet, hallux valgus deformity of big toe and rudimentary bud of lesser toes. Aziz et al. (2014)
p.Gln154* Mesoaxial type of syndactyly, pre-axial syndactyly of index finger and thumb at distal phalanx, cleft hand deformity with absence of middle finger, Aplasia of distal phalanx of the middle finger, hallux valgus deformities of big toe, missing central toes, missing of great thumb Present study
p.Leu103Argfs*53 Syndactyly of the great thumb and 2nd toe in feet and an additional rudimentary bud on 3rd toe, hypoplasia of 1st metacarpal, complex fusion of middle to ring finger, aplasia of middle phalanx of 3rd finger, bilateral hypoplasia and fusion of the 3rd and 4th finger, fingers with contractures and deviations, central deficiency and varus deformity of lesser toe, claw toe deformity. Present study