Showing papers in "American Journal of Human Genetics in 1970"

Amish albinism: a distinctive autosomal recessive phenotype.

Abstract: Evidence for extensive genetic heterogeneity among various forms of albinism has long been available in lower animals (Searle 1968 ). More recently, biochemical and genetic studies have demonstrated the existence of at least two different forms of generalized oculocutaneous albinism in man (Witkop et al. 1970). We wish to describe an additional autosomal recessive form of albinism observed in 10 members of four related consanguineous Amish sibships. The clinical and laboratory findings in affected individuals were quite similar and appear to constitute a distinctive. \"new\" phenotype.