Anhidrotic ectodermal dysplasia as autosomal recessive trait in an inbred kindred

Distinct, autosomal recessive form of sp

Distinct, autosomal recessive form of spondyloepimetaphyseal dysplasia segregating in an inbred Pakistani kindred

✍ Ahmad, Mahmud; Ul Haque, Muhammad Faiyaz; Ahmad, Wasim; Abbas, Hasan; Haque, Say 📂 Article 📅 1998 🏛 John Wiley and Sons 🌐 English ⚖ 40 KB 👁 2 views

We describe a large inbred kindred from a remote area of Pakistan, comprising eight generations, with a distinct form of spondyloepimetaphyseal dysplasia (SEMD). We evaluated 16 affected individuals: 11 males and 5 females. Analysis of the pedigree strongly suggests autosomal recessive inheritance,