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Recurrent homozygous damaging mutation in TMX2, encoding a protein disulfide isomerase, in four families with microlissencephaly.
Ghosh SG, Wang L, Breuss MW, Green JD, Stanley V, Yang X, Ross D, Traynor BJ, Alhashem AM, Azam M, Selim L, Bastaki L, Elbastawisy HI, Temtamy S, Zaki M, Gleeson JG. Ghosh SG, et al. Among authors: elbastawisy hi. J Med Genet. 2020 Apr;57(4):274-282. doi: 10.1136/jmedgenet-2019-106409. Epub 2019 Oct 5. J Med Genet. 2020. PMID: 31586943 Free PMC article.