This study describes the first structural model of the human NNT, an enzyme crucial in the defence of cells against oxidative stress, defects in which have not only been linked to FGD and LVNC, but are also strong candidates for several other human disorders [Freeman et al., 2006; Reuter et al., 2010; Ripoll et al., 2012]. Here, NNT is linked to Aarskog-Scott syndrome, X-linked.