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. 2023 Jun 29;32(18):2822–2831. doi: 10.1093/hmg/ddad109

Figure 1.

Figure 1

Characteristics of individuals with RAB34 variants. (A–C) Individual F1 at 13 + 5 WG presenting oral cleft (A), bilateral limb polysyndactyly (B, C) and anal atresia (C). (D–G) Individual F2.1 at 21 + 6 WG, presenting turricephaly (D), preaxial polydactyly (E), anal atresia (F) and bilateral oral cleft (G). (H–Q) Individual F2.2 at 22 + 1 WG showing preaxial and central polydactyly (H, I, K, L, N–Q) and bilateral oral cleft (J, M). X-rays confirm bilateral polydactyly and central, Y-sharped metacarpal (I, L). (R–T) Individual F3 (age 14 days) presenting bilateral oral cleft (R) and hand/feet polysyndactyly (S, T).