Genetic disorders involving the skeletal system arise through disturbances in the complex
processes of skeletal development, growth and homeostasis and remain a diagnostic …

Recently, the genetic heterogeneity in osteogenesis imperfecta (OI), proposed in 1979 by
Sillence et al., has been confirmed with molecular genetic studies. At present, 17 genetic …

Achondroplasia is the most prevalent chondrodysplasia and numerous authors have
documented the varied social and medical complications that may compromise a full and …

An epidemiological and genetical study of osteogenesis imperfecta (OI) in Victoria, Australia
confirmed that there are at least four distinct syndromes at present called OI. The largest …

Abstract Niemann-Pick type C1 (NPC1) disease is a neurodegenerative lysosomal storage
disorder caused by mutations in the acidic compartment (which we define as the late …

The application of massively parallel sequencing technology to the field of skeletal disorders
has boosted the discovery of the underlying genetic defect for many of these diseases. It has …

Summary The Fabry Registry is a global observational research platform established to
define outcome data on the natural and treated course of this rare disorder. Participating …

The purpose of the nosology is to serve as a “master” list of the genetic disorders of the
skeleton to facilitate diagnosis and to help delineate variant or newly recognized conditions …

The hallmark of fibrotic processes is an excessive accumulation of collagen. The deposited
collagen shows an increase in pyridinoline cross-links, which are derived from hydroxylated …

In the seven years since a major review of osteogenesis imperfecta (01) in this serie~,~~
there has been considerable expansion in our knowledge of the genetic and potential …