Zobrazeno 1 - 1
of 1
pro vyhledávání: '"Frank H.P. Lai"'
Publikováno v:
Ophthalmic genetics.
To report a case of concurrent pantothenate kinase-associated neurodegeneration (PKAN) and oculocutaneous albinism (OCA) with dual PANK2 and OCA2 variants in a Chinese patient who presented with early-onset reduced vision, nyctalopia, and neurologica