Short Stature Homeobox-Containing Haploinsufficiency in Seven Siblings with Short Stature
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DOI: 10.1155/2017/7287351
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 with SHOX deficiency due to a point mutation in the SHOX gene.… read more here.
Keywords: stature homeobox; stature; seven siblings; short stature ... See more keywords