1 | PIGG, PIGGD |
Pathogenic Variants in PIGG Cause Intellectual Disability with Seizures and Hypotonia. | |
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. | |
Am J Hum Genet 98(4):615-26. doi: 10.1016/j.ajhg.2016.02.007. Epub 2016 Mar 17. 2016 | |