Two novel mutations of COL1A1 in fetal genetic skeletal dysplasia of Chinese
Sign Up to like & getrecommendations! Published in 2020 at "Molecular Genetics & Genomic Medicine"
DOI: 10.1002/mgg3.1105
Abstract: Skeletal disorders, which have great genotypic and phenotypic varieties, are a considerable challenge to differentiate these diseases and provide a definitive prenatal diagnosis or pre‐implantation. The present study aims to identify the causative mutation in… read more here.
Keywords: col1a1 fetal; mutations col1a1; novel mutations; genetic skeletal ... See more keywords
The evolving therapeutic landscape of genetic skeletal disorders
Sign Up to like & getrecommendations! Published in 2019 at "Orphanet Journal of Rare Diseases"
DOI: 10.1186/s13023-019-1222-2
Abstract: BackgroundRare bone diseases account for 5% of all birth defects yet very few have personalised treatments. Developments in genetic diagnosis, molecular techniques and treatment technologies however, are leading to unparalleled therapeutic advance. This review explores… read more here.
Keywords: therapeutic landscape; genetic skeletal; skeletal disorders; landscape genetic ... See more keywords