Ontology highlight
ABSTRACT:
SUBMITTER: Sandberg ES
PROVIDER: S-EPMC5602651 | biostudies-other | 2017
REPOSITORIES: biostudies-other
Sandberg Elizabeth S ES Calikoglu Ali S AS Loechner Karen J KJ Snyder Lydia L LL
Case reports in endocrinology 20170830
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 with SHOX deficiency due to a point mutation in the SHOX gene. Index case was a 3-year-old male who presented for evaluation of short stature. His past medical history and birth history were unremarkable. Family history was notable for multiple individuals with short stature. Physical exam revealed short stature, with height standard deviation score ...[more]