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Recurrent homozygous damaging mutation in TMX2, encoding a protein disulfide isomerase, in four families with microlissencephaly
Shereen Georges Ghosh, Lu Wang, Martin W Breuss, Joshua D Green, Valentina Stanley, Xiaoxu Yang, Danica Ross, Bryan J Traynor, Amal M Alhashem, Matloob Azam, Laila Selim, Laila Bastaki, Hanan I Elbastawisy, Samia Temtamy, Maha Zaki, Joseph G Gleeson

Journal of Medical Genetics Apr 2020, 57 (4) 274-282; DOI: 10.1136/jmedgenet-2019-106409

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