Vitamin A deficiency due to bi-allelic mutation of RBP4: There’s more to it than meets the eye
Sign Up to like & getrecommendations! Published in 2017 at "Ophthalmic Genetics"
DOI: 10.1080/13816810.2016.1227453
Abstract: ABSTRACT Vitamin A deficiency is the leading cause of preventable blindness in children worldwide and results in a well-recognized ocular phenotype. Herein we describe a patient presenting to the eye clinic with a retinal dystrophy… read more here.
Keywords: due allelic; allelic mutation; deficiency; eye ... See more keywords
Bi‐allelic mutation in SEC16B alters collagen trafficking and increases ER stress
Sign Up to like & getrecommendations! Published in 2023 at "EMBO Molecular Medicine"
DOI: 10.15252/emmm.202216834
Abstract: Osteogenesis imperfecta (OI) is a genetically and clinically heterogeneous disorder characterized by bone fragility and reduced bone mass generally caused by defects in type I collagen structure or defects in proteins interacting with collagen processing.… read more here.
Keywords: collagen trafficking; allelic mutation; sec16b alters; mutation sec16b ... See more keywords