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Clinical characteristics of the variants of POU1F1 beta coding region
(A) Pedigrees and the sequence of POU1F1 variants. Families 1–4 have variants in the POU1F1 beta coding region: c.148T>G (p.Ser50Ala), c.152T>G (p.Ile51Ser), c.155T>G (p.Leu52Trp), and c.157T>G (p.Ser53Ala).
(B) Growth curve of the affected individuals from families 2 and 4. GH replacement therapy was effective in reaching ideal height.
