SHOX value: the pseudoautosomal gene underlying short stature in Turner syndrome
Nature Reviews Genetics publishes short “Journal Club” articles about papers in the field that made an impact. Here, I wrote about a 1997 study from the lab of Gudrun Rappold that identified the genetic cause of short stature in Turner syndrome - the transcription factor SHOX in the pseudoautosomal region of the X and Y chromosomes. This is a fantastic example of how studying naturally arising genetic variation in well-phenotyped cohorts can improve our understanding of basic biological mechanisms.
