ZFIN Image: Blackwell et al., 2022, Fig. 7.

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Figure Caption

Fig. 7.

Radiographic features of siblings with a VUS in HNRNPUL1. a–e) X-ray images of older sibling. Right arm showing short humerus and absent ulna with 2 fixed in extension digits of the right hand (a). Left arm showing short humerus and normal upper arm (b). Right (c) and Left (d) legs showing mid-shaft femoral pseudoarthroses, fused tibia to the femoral condyles, absent fibulas, and abnormal toes. f–j) X-ray images of the younger sibling Right (f) and Left (g) legs showing bilateral fibular agenesis, short and bowed femurs, and 4 metarsals and tarsals (h). Right arm (i) showing normal upper limb development.

Acknowledgments

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