Zebrafish type I collagen mutants faithfully recapitulate human type I collagenopathies
Sign Up to like & getrecommendations! Published in 2018 at "Proceedings of the National Academy of Sciences of the United States of America"
DOI: 10.1073/pnas.1722200115
Abstract: Significance Type I collagenopathies are a heterogenous group of connective tissue disorders, caused by genetic defects in type I collagen. Inherent to these disorders is a large clinical variability, of which the underlying molecular basis… read more here.
Keywords: human type; type collagenopathies; variability; type ... See more keywords
A novel homozygous variant of COL2A1 in a Chinese male with type II collagenopathy: a case report
Sign Up to like & getrecommendations! Published in 2021 at "BMC Medical Genomics"
DOI: 10.1186/s12920-021-01048-0
Abstract: Background Type II collagenopathies are a spectrum of diseases and skeletal dysplasia is one of the prominent features of collagenopathies. Molecular defects of the COL2A1 gene cause type II collagenopathies that is mainly an autosomal… read more here.
Keywords: novel homozygous; type collagenopathies; case; homozygous variant ... See more keywords