David A; Butz, Henriett; Halász, Zita; Török, Dóra; Nyírő, Gábor; Muzsnai A; Csakvary V; Luczay, Andrea; Sallai, Ágnes; Hosszú, Éva; Felszeghy E; Tar A; Szanto Z; Fekete GL; Kun I; Patocs, Attila; Bertalan R
(2017)
INTRODUCTION: The isolated haploinsufficiency of the SHOX gene is one of the most common cause of short stature determined by monogenic mutations. The heterozygous deviation of the gene can be detected in 2-15% of patients ...