CCDC88A mutations cause PEHO-like syndrome in humans and mouse

Nahorski MS, Asai M, Wakeling E, Parker A, Asai N, Canham N, Holder SE, Chen YC, Dyer J, Brady AF, Takahashi M, Woods CG. CCDC88A mutations cause PEHO-like syndrome in humans and mouse. Brain. 2016 Apr;139(Pt 4):1036-44.

PubMed ID: 
26917597