Clinical and molecular characterization of duplications encompassing the human SHOX gene reveal a variable effect on stature Thomas NS et al. - The effect of the duplications on stature was variable: height appeared to be elevated in some carriers, particularly in those with the largest duplications, but was still within the normal range. SHOX duplications are likely to be under ascertained and more cases need to be identified and characterized in detail in order to accurately determine their phenotypic consequences. [more...]
