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. Author manuscript; available in PMC: 2016 Jan 1.
Published in final edited form as: Hum Mutat. 2015 Jan;36(1):48–56. doi: 10.1002/humu.22691

Figure 1.

Figure 1

(A, C): 24 year old male non-mosaic proband F2P showing proximal weakness and long finger flexor contractures. (B, D): His 60 year old mosaic father F2M demonstrates mild long finger flexor and elbow contractures with minimal weakness. (E, G): Ten year old female non-mosaic proband F1P with contractures in long finger flexors and elbows and her 40 year old mosaic father F1M with mild long finger flexor and elbow contractures (F, H). (I, J): 17 year old male non-mosaic proband F3P with long finger flexor contractures and distal finger hyperlaxity and his 53 year old mosaic father F3M without long finger flexor contractures and mild elbow contractures (K, L).