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Novel homozygous pathogenic mitochondrial DNAJC19 variant in a patient with dilated cardiomyopathy and global developmental delay.
Mol Genet Genomic Med. 2022 Aug;10(8):e1969. doi: 10.1002/mgg3.1969. Epub 2022 May 25.
Mol Genet Genomic Med. 2022.
PMID: 35611801
Free PMC article.
Aberrant tRNA processing causes an autoinflammatory syndrome responsive to TNF inhibitors.
Giannelou A, Wang H, Zhou Q, Park YH, Abu-Asab MS, Ylaya K, Stone DL, Sediva A, Sleiman R, Sramkova L, Bhatla D, Serti E, Tsai WL, Yang D, Bishop K, Carrington B, Pei W, Deuitch N, Brooks S, Edwan JH, Joshi S, Prader S, Kaiser D, Owen WC, Sonbul AA, Zhang Y, Niemela JE, Burgess SM, Boehm M, Rehermann B, Chae J, Quezado MM, Ombrello AK, Buckley RH, Grom AA, Remmers EF, Pachlopnik JM, Su HC, Gutierrez-Cruz G, Hewitt SM, Sood R, Risma K, Calvo KR, Rosenzweig SD, Gadina M, Hafner M, Sun HW, Kastner DL, Aksentijevich I.
Giannelou A, et al.
Ann Rheum Dis. 2018 Apr;77(4):612-619. doi: 10.1136/annrheumdis-2017-212401. Epub 2018 Jan 22.
Ann Rheum Dis. 2018.
PMID: 29358286
Free PMC article.
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Unusual Presentation of Kawasaki Disease in a 13-year-old Saudi Boy.
Sleiman R, Almohayya T, Al Hennawi H.
Sleiman R, et al.
Cureus. 2019 Feb 12;11(2):e4053. doi: 10.7759/cureus.4053.
Cureus. 2019.
PMID: 31016080
Free PMC article.
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