Makrythanasis P, Kato M, Zaki MS, Saitsu H, Nakamura K, Santoni FA, Miyatake S, Nakashima M, Issa MY, Guipponi M, Letourneau A, Logan CV, Roberts N, Parry DA, Johnson CA, Matsumoto N, Hamamy H, Sheridan E, Kinoshita T, Antonarakis SE, Murakami Y

Pathogenic Variants in PIGG Cause Intellectual Disability with Seizures and Hypotonia.

Am J Hum Genet 98:615-26 (2016)
DOI:10.1016/j.ajhg.2016.02.007