Autosomal‐dominant myopia associated to a novel P4HA2 missense variant and defective collagen hydroxylation
Sign Up to like & getrecommendations! Published in 2018 at "Clinical Genetics"
DOI: 10.1111/cge.13217
Abstract: We recently described a complex multisystem syndrome in which mild‐moderate myopia segregated as an independent trait. A plethora of genes has been related to sporadic and familial myopia. More recently, in Chinese patients severe myopia… read more here.
Keywords: p4ha2; associated novel; myopia; missense variant ... See more keywords