Short Stature Homeobox-Containing Haploinsufficiency in Seven Siblings with Short Stature

Sandberg, ES; Calikoglu, AS; Loechner, KJ; Snyder, LL

Sandberg, ES (reprint author), Univ North Carolina Chapel Hill, Dept Pediat, Div Endocrinol, Chapel Hill, NC 27599 USA.

CASE REPORTS IN ENDOCRINOLOGY, 2017; ( ):

Abstract

Deficiency of the short stature homeobox-containing (SHOX) gene is a frequent cause of short stature in children (2-15%). Here, we report 7 siblings w......

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