Presentation Information

[O4-2]Identification of a hemizygous OCA2 variant in a neonate with oculocutaneous albinism and Prader-Willi syndrome

Sumito Dateki1,2, Chiaki Murakami2, Haruka Kawamura2, Kohei Haraguchi2, Midori Motokawa2 (1.Department of Pediatrics, Nagasaki University Graduate School of Biomedical Sciences, Nagasaki, Japan, 2.Department of Pediatrics, Nagasaki University Hospital)

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