46,XY gonadal dysgenesis: Evidence for autosomal dominant transmission in a large kindred

Linkage analysis in a large kindred with

Linkage analysis in a large kindred with autosomal dominant transmission of polyglandular autoimmune disease type II (Schmidt syndrome)

✍ Butler, Merlin G. ;Hodes, M. E. ;Conneally, P. M. ;Biegel, Angenieta A. ;Wright, 📂 Article 📅 1984 🏛 John Wiley and Sons 🌐 English ⚖ 317 KB 👁 2 views

Schmidt syndrome (PGA syndrome type 11) is a rare condition characterized by polyglandular failure. It is an autosomal dominant trait with variable expressivity that was inherited over four generations in an Indiana kindred. Association of HLA-B8 has been reported with Schmidt syndrome. Our proband