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Whole exome sequencing identifies a novel compound heterozygous GFM1 variant underlying developmental delay, dystonia, polymicrogyria, and severe intellectual disability in a Pakhtun family.
Khan AU, Khan I, Khan MI, Latif M, Siddiqui MI, Khan SU, Htar TT, Wahid G, Ullah I, Bibi F, Khan A, Naseer MI, Seo GH, Jelani M. Khan AU, et al. Among authors: latif m. Am J Med Genet A. 2022 Sep;188(9):2693-2700. doi: 10.1002/ajmg.a.62856. Epub 2022 Jun 15. Am J Med Genet A. 2022. PMID: 35703069
Case Report: Biallelic Variant in the tRNA Methyltransferase Domain of the AlkB Homolog 8 Causes Syndromic Intellectual Disability.
Waqas A, Nayab A, Shaheen S, Abbas S, Latif M, Rafeeq MM, Al-Dhuayan IS, Alqosaibi AI, Alnamshan MM, Sain ZM, Habib AH, Alam Q, Umair M, Saqib MAN. Waqas A, et al. Among authors: latif m. Front Genet. 2022 Apr 28;13:878274. doi: 10.3389/fgene.2022.878274. eCollection 2022. Front Genet. 2022. PMID: 35571055 Free PMC article.
952 results