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IGSF1 Deficiency: Lessons From an Extensive Case Series and..:

Joustra, S. D. ; Heinen, C. A. ; Schoenmakers, N....
The Journal of Clinical Endocrinology & Metabolism.  101 (2016)  4 - p. 1627-1636 , 2016
Link: https://doi.org/10.1210/jc.2015-3880