Case Rep Endocrinol 2017 30;2017:7287351. Epub 2017 Aug 30.
Division of Pediatric Endocrinology, Department of Pediatrics, Nemours Children's Health System, Jacksonville, FL, USA.
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. Read More