Ilkovski B, Pagnamenta AT, O'Grady GL, Kinoshita T, Howard MF, Lek M, Thomas B, Turner A, Christodoulou J, Sillence D, Knight SJ, Popitsch N, Keays DA, Anzilotti C, Goriely A, Waddell LB, Brilot F, North KN, Kanzawa N, Macarthur DG, Taylor JC, Kini U, Murakami Y, Clarke NF

Mutations in PIGY: expanding the phenotype of inherited glycosylphosphatidylinositol deficiencies.

Hum Mol Genet 24:6146-59 (2015)
DOI:10.1093/hmg/ddv331