Skeleton Genetics: a comprehensive database for genes and mutations related to genetic skeletal disorders.

ABSTRACT: Genetic skeletal disorders (GSD) involving the skeletal system arises through disturbances in the complex processes of skeletal development, growth and homeostasis and remain a diagnostic challenge because of their clinical heterogeneity and genetic variety. Over the past decades, tremendous effort platforms have been made to explore the complex heterogeneity, and massive new genes and mutations have been identified in different GSD, but the information supplied by literature is still limited and it is hard to meet the further needs of scientists and clinicians. In this study, combined with Nosology and Classification of genetic skeletal disorders, we developed the first comprehensive and annotated genetic skeletal disorders database, named 'SkeletonGenetics', which contains information ab

SUBMITTER: Chen C 

PROVIDER: S-EPMC5006089 | biostudies-literature | 2016

REPOSITORIES: biostudies-literature