Article
A new osteogenesis imperfecta with improvement over time maps to 11q.
American journal of medical genetics. Part A - 15 Jul 2008
Kamoun-Goldrat Agnès, Pannier Stéphanie, Huber Céline, Finidori Georges, Munnich Arnold, Cormier-Daire Valérie, Le Merrer Martine
Abstract excerpt
Osteogenesis imperfecta (OI) is basically divided into four clinical types, I-IV. Type IV clearly represents a heterogeneous group of disorders. Here we describe two OI patients in the same family. They would typically be classified as having type IV, but are distinguishable from other OI type IV patients by the improving and resolving course of their disease. Mutation screening did not identify mutations...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.