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Congenital disorder of glycosylation with defective fucosylation 2 (FCSK gene defect): The third report in the literature with a mild phenotype.
Al Tuwaijri A, Alyafee Y, Umair M, Alsubait A, Alharbi M, AlEidi H, Ballow M, Aldrees M, Alam Q, Al Abdulrahman A, Alrifai MT, Alfadhel M. Al Tuwaijri A, et al. Among authors: alyafee y. Mol Genet Genomic Med. 2023 Apr;11(4):e2117. doi: 10.1002/mgg3.2117. Epub 2022 Nov 24. Mol Genet Genomic Med. 2023. PMID: 36426412 Free PMC article.
Mutated VWA8 Is Associated With Developmental Delay, Microcephaly, and Scoliosis and Plays a Novel Role in Early Development and Skeletal Morphogenesis in Zebrafish.
Umair M, Farooq Khan M, Aldrees M, Nashabat M, Alhamoudi KM, Bilal M, Alyafee Y, Al Tuwaijri A, Aldarwish M, Al-Rumayyan A, Alkhalaf H, Wadaan MAM, Alfadhel M. Umair M, et al. Among authors: alyafee y. Front Cell Dev Biol. 2021 Oct 1;9:736960. doi: 10.3389/fcell.2021.736960. eCollection 2021. Front Cell Dev Biol. 2021. PMID: 34660594 Free PMC article.
Pancytopenia, Recurrent Infection, Poor Wound Healing, Heterotopia of the Brain Probably Associated with A Candidate Novel de Novo CDC42 Gene Defect: Expanding the Molecular and Phenotypic Spectrum.
Asiri A, Alwadaani D, Umair M, Alhamoudi KM, Almuhanna MH, Nasir A, Alrfaei BM, Al Tuwaijri A, Barhoumi T, Alyafee Y, Almuzzaini B, Aldrees M, Ballow M, Alayyar L, Al Abdulrahman A, Alhaidan Y, Al Ghasham N, Al-Ajaji S, Alsalamah M, Al Suwairi W, Alfadhel M. Asiri A, et al. Among authors: alyafee y. Genes (Basel). 2021 Feb 20;12(2):294. doi: 10.3390/genes12020294. Genes (Basel). 2021. PMID: 33672558 Free PMC article.
17 results