Nahorski MS et al.CCDC88A mutations cause PEHO-like syndrome in humans and mouse. Brain. 2016;139(4):1036-44. PMID: 26917597.
Abdulkareem AA et al.A novel homozygous nonsense mutation in CCDC88A gene cause PEHO-like syndrome in consanguineous Saudi family. Neurol Sci. 2019;40(2):299-303. PMID: 30392057.