In addition, exome sequencing was also used to identify the c.71-1insG variant in the MCM4 gene which results in the syndrome of adrenal failure, short stature, and natural killer (NK) cell deficiency in Irish Travelers (17) and the p.Y447* variant in TXNRD2 responsible for FGD in a large Kashmiri kindred (28). This evidence concerns the gene TXNRD2 and Aarskog-Scott syndrome, X-linked.