Sökning: "Anna Hammarsjö"

Hittade 1 avhandling innehållade orden Anna Hammarsjö.

1. 1. Expanding the genetic and phenotypic spectrum of skeletal dysplasias

   Författare :Anna Hammarsjö; Karolinska Institutet; Karolinska Institutet; []
   Nyckelord :;

   Sammanfattning : Skeletal dysplasias constitute a large and heterogeneous group of disorders, many causing disabilities with profound effects on the quality of life of the affected individuals and their families. Each individual skeletal dysplasia is rare, however, as more than 450 different disorders have been described, skeletal dysplasias as a group affect approximately three in 10 000 individuals. LÄS MER