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Hormone Research in Paediatrics|September 13, 2019
Diagnosis, Genetics, and Therapy of Short Stature in Children: A Growth Hormone Research Society International PerspectivePaulo F Collett-Solberg, Geoffrey Ambler, Philippe F Backeljauw, et al.The Journal of Clinical Endocrinology and Metabolism|January 9, 2025
Loss-of-Function GHSR Variants Are Associated With Short Stature and Low IGF-ILauren D Punt, Sander Kooijman, Noa J M Mutsters, et al.American Journal of Human Genetics|December 14, 2020
SCUBE3 loss-of-function causes a recognizable recessive developmental disorder due to defective bone morphogenetic protein signalingYuh-Charn Lin, Marcello Niceta, Valentina Muto, et al.Nature Genetics|November 13, 2012
Loss-of-function mutations in IGSF1 cause an X-linked syndrome of central hypothyroidism and testicular enlargementYu Sun, Beata Bak, Nadia Schoenmakers, et al.Orphanet Journal of Rare Diseases|April 30, 2013
The phenotype of Floating-Harbor syndrome: clinical characterization of 52 individuals with mutations in exon 34 of SRCAPSarah M Nikkel, Andrew Dauber, Sonja de Munnik, et al.Pageof 26