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. 2020 Oct 23;11:593407. doi: 10.3389/fgene.2020.593407

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Copyright © 2020 Sowińska-Seidler, Sztromwasser, Zawadzka, Sielski, Bukowska-Olech, Zawadzki, Kozłowski and Jamsheer.

This is an open-access article distributed under the terms of the Creative Commons Attribution License (CC BY). The use, distribution or reproduction in other forums is permitted, provided the original author(s) and the copyright owner(s) are credited and that the original publication in this journal is cited, in accordance with accepted academic practice. No use, distribution or reproduction is permitted which does not comply with these terms.

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Skeletal malformations observed in the female proband (A–D) and her brother (E,F). (A) bilateral genua valga with a severe broadening of the knee joints. (A,F) Radiographs of the legs showing wide metaphyses and thin cortex of the femoral and tibial bones. (B,E) Radiographs of the upper extremities showing broadening of the proximal two-thirds of the humeri and the distal portion of the radial bone. The inward deviation of the distal one-third of the humeri was also noted (E). (C) Radiographs of the spine showing thoracolumbar scoliosis. (D) Radiograph of the feet showing broadened metatarsals. ID: 1, proband, ID: 2, affected sibling.