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. Author manuscript; available in PMC: 2021 Dec 10.
Published in final edited form as: Genet Med. 2021 Jun 10;23(10):1889–1900. doi: 10.1038/s41436-021-01216-8

Figure 1 -. Overview of patients with GDF11 variants.

Figure 1 -

(A) Pictures of Proband 1 (B) GDF11 expression was measured in PBMCs derived from the proband or unaffected mother by qPCR using primer sets spanning exons 1 and 2 (left) or 2 and 3 (right) normalized to GUSB loading control expression. RNA was collected from n = 2 technical replicates from N = 1 blood draws per patient. Error bars = SD. (C) GDF11 expression was measured in plasma derived from the proband or unaffected mother using a commercial GDF11 ELISA kit (LSBio #LS-F11519) Error bars = SEM. Quantification was performed in n = 4 technical replicates from N = 1 blood draw per patient. Pictures of proband 2 (D) and proband 6 (E). X-ray of proband 5 (F).