Clinical Exome Sequencing Identifies NDP Gene Variants in Two Chinese Families with X-Linked Norrie Disease.
Sign Up to like & getrecommendations! Published in 2022 at "Genetic testing and molecular biomarkers"
DOI: 10.1089/gtmb.2022.0142
Abstract: Purpose: To explore the genetic defects in two Chinese families with X-linked Norrie disease (ND). Methods: We analyzed two Chinese families with ND at molecular level through clinical exome sequencing and the variations were identified… read more here.
Keywords: two chinese; clinical exome; ndp gene; chinese families ... See more keywords
A novel frameshift c.22_25dupGCAT mutation of the NDP gene in a Chinese infant with Norrie disease
Sign Up to like & getrecommendations! Published in 2022 at "Medicine"
DOI: 10.1097/md.0000000000028523
Abstract: Abstract Rationale: Norrie disease (ND) is a rare X-linked recessive disease characterized by bilateral congenital blindness and auditory impairments. According to the previous studies, Norrin cystine knot growth factor (NDP) gene have been found to… read more here.
Keywords: ndp gene; mutation ndp; norrie disease; mutation ... See more keywords