Growth hormone (GH) insensitivity syndrome due to a GH receptor truncated after Box1, resulting in isolated failure of STAT 5 signal transduction.
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L. Metherell | M. Savage | M. Bidlingmaier | R. Ross | I. Wilkinson | S. Webb | M. Barahona | A. Clark | C. Camacho‐Hübner | M. Maamra | A. Milward