Clinical and genetic characteristics of 14 patients from 13 Japanese families with RPGR-associated retinal disorder: report of eight novel variants
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DOI: 10.1038/s41439-019-0065-7
Abstract: Variants in the retinitis pigmentosa GTPase regulator (RPGR) gene are a major cause of X-linked inherited retinal disorder (IRD). We herein describe the clinical and genetic features of 14 patients from 13 Japanese families harboring… read more here.
Keywords: patients japanese; retinal disorder; clinical genetic; novel variants ... See more keywords