A novel frameshift c.22_25dupGCAT mutation of the NDP gene in a Chinese infant with Norrie disease
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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