Article
The growth response to GH treatment is greater in patients with SHOX enhancer deletions compared to SHOX defects.
European journal of endocrinology - 1 Nov 2015
Donze S H, Meijer C R, Kant S G, Zandwijken G R J, van der Hout A H, van Spaendonk R M L, van den Ouweland A M W, Wit J M, Losekoot M, Oostdijk W
Abstract excerpt
OBJECTIVE: Short stature caused by point mutations or deletions of the short stature homeobox (SHOX) gene (SHOX haploinsufficiency (SHI)) is a registered indication for GH treatment. Patients with a SHOX enhancer deletion (SED) have a similar phenotype, but their response to GH is unknown. It is uncertain if duplications of SHOX or its enhancer (SDUP) cause short stature. This study aimed to describe the clinical...
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