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PubMed (cited) for id: 260565

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ZNHIT3 is defective in PEHO syndrome, a severe encephalopathy with cerebellar granule neuron loss.
Anttonen AK, Laari A, Kousi M, Yang YJ, Jääskeläinen T, Somer M, Siintola E, Jakkula E, Muona M, Tegelberg S, Lönnqvist T, Pihko H, Valanne L, Paetau A, Lun MP, Hästbacka J, Kopra O, Joensuu T, Katsanis N, Lehtinen MK, Palvimo JJ, Lehesjoki AE. Anttonen AK, et al. Brain. 2017 May 1;140(5):1267-1279. doi: 10.1093/brain/awx040. Brain. 2017. PMID: 28335020
PEHO and PEHO-like syndromes: report of five Australian cases.
Field MJ, Grattan-Smith P, Piper SM, Thompson EM, Haan EA, Edwards M, James S, Wilkinson I, Adès LC. Field MJ, et al. Am J Med Genet A. 2003 Sep 15;122A(1):6-12. doi: 10.1002/ajmg.a.20216. Am J Med Genet A. 2003. PMID: 12949965
PEHO or PEHO-like syndrome?
Chitty LS, Robb S, Berry C, Silver D, Baraitser M. Chitty LS, et al. Clin Dysmorphol. 1996 Apr;5(2):143-52. doi: 10.1097/00019605-199604000-00006. Clin Dysmorphol. 1996. PMID: 8723564