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2022 2
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A Novel Homozygous Founder Variant of RTN4IP1 in Two Consanguineous Saudi Families.
Aldosary M, Alsagob M, AlQudairy H, González-Álvarez AC, Arold ST, Dababo MA, Alharbi OA, Almass R, AlBakheet A, AlSarar D, Qari A, Al-Ansari MM, Oláhová M, Al-Shahrani SA, AlSayed M, Colak D, Taylor RW, AlOwain M, Kaya N. Aldosary M, et al. Among authors: gonzalez alvarez ac. Cells. 2022 Oct 7;11(19):3154. doi: 10.3390/cells11193154. Cells. 2022. PMID: 36231115 Free PMC article.
Further delineation of Wiedemann-Rautenstrauch syndrome linked with POLR3A.
Khan A, Al Shamsi B, Al Shehhi M, Kashgari AA, Al Balushi A, Al Dihan FA, Alghamdi MA, Manal A, González-Álvarez AC, Arold ST, Eyaid W. Khan A, et al. Among authors: gonzalez alvarez ac. Mol Genet Genomic Med. 2024 Mar;12(3):e2274. doi: 10.1002/mgg3.2274. Epub 2024 Feb 13. Mol Genet Genomic Med. 2024. PMID: 38348603 Free PMC article.