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5. Expanding the Clinical and Molecular Spectrum of HARS2-Perrault Syndrome: Identification of a Novel Homozygous Missense Variant in the Souissi A; Ben Said M; Frikha F; Elloumi I; Masmoudi S; Megarbane A Genet Test Mol Biomarkers; 2021 Aug; 25(8):528-539. PubMed ID: 34406847 [No Abstract] [Full Text] [Related]
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7. Perrault syndrome with neurological features in a compound heterozygote for two TWNK mutations: overlap of TWNK-related recessive disorders. Domínguez-Ruiz M; García-Martínez A; Corral-Juan M; Pérez-Álvarez ÁI; Plasencia AM; Villamar M; Moreno-Pelayo MA; Matilla-Dueñas A; Menéndez-González M; Del Castillo I J Transl Med; 2019 Aug; 17(1):290. PubMed ID: 31455392 [TBL] [Abstract][Full Text] [Related]
8. A homozygous missense variant in HSD17B4 identified in a consanguineous Chinese Han family with type II Perrault syndrome. Chen K; Yang K; Luo SS; Chen C; Wang Y; Wang YX; Li DK; Yang YJ; Tang YL; Liu FT; Wang J; Wu JJ; Sun YM BMC Med Genet; 2017 Aug; 18(1):91. PubMed ID: 28830375 [TBL] [Abstract][Full Text] [Related]
10. Genomic sequencing highlights the diverse molecular causes of Perrault syndrome: a peroxisomal disorder (PEX6), metabolic disorders (CLPP, GGPS1), and mtDNA maintenance/translation disorders (LARS2, TFAM). Tucker EJ; Rius R; Jaillard S; Bell K; Lamont PJ; Travessa A; Dupont J; Sampaio L; Dulon J; Vuillaumier-Barrot S; Whalen S; Isapof A; Stojkovic T; Quijano-Roy S; Robevska G; van den Bergen J; Hanna C; Simpson A; Ayers K; Thorburn DR; Christodoulou J; Touraine P; Sinclair AH Hum Genet; 2020 Oct; 139(10):1325-1343. PubMed ID: 32399598 [TBL] [Abstract][Full Text] [Related]
11. First independent replication of the involvement of LARS2 in Perrault syndrome by whole-exome sequencing of an Italian family. Soldà G; Caccia S; Robusto M; Chiereghin C; Castorina P; Ambrosetti U; Duga S; Asselta R J Hum Genet; 2016 Apr; 61(4):295-300. PubMed ID: 26657938 [TBL] [Abstract][Full Text] [Related]
12. Broadening the phenotype of the TWNK gene associated Perrault syndrome. Fekete B; Pentelényi K; Rudas G; Gál A; Grosz Z; Illés A; Idris J; Csukly G; Domonkos A; Molnar MJ BMC Med Genet; 2019 Dec; 20(1):198. PubMed ID: 31852434 [TBL] [Abstract][Full Text] [Related]
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14. A novel mutation of Twinkle in Perrault syndrome: A not rare diagnosis? Gotta F; Lamp M; Geroldi A; Trevisan L; Origone P; Fugazza G; Fabbri S; Nesti C; Rubegni A; Morani F; Santorelli FM; Bellone E; Mandich P Ann Hum Genet; 2020 Sep; 84(5):417-422. PubMed ID: 32281099 [TBL] [Abstract][Full Text] [Related]
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17. Marfanoid habitus is a nonspecific feature of Perrault syndrome. Zerkaoui M; Demain LAM; Cherkaoui Jaouad I; Ratbi I; Amjoud K; Urquhart JE; O'Sullivan J; Newman WG; Sefiani A Clin Dysmorphol; 2017 Oct; 26(4):200-204. PubMed ID: 28832386 [TBL] [Abstract][Full Text] [Related]
18. An RMND1 Mutation causes encephalopathy associated with multiple oxidative phosphorylation complex deficiencies and a mitochondrial translation defect. Janer A; Antonicka H; Lalonde E; Nishimura T; Sasarman F; Brown GK; Brown RM; Majewski J; Shoubridge EA Am J Hum Genet; 2012 Oct; 91(4):737-43. PubMed ID: 23022098 [TBL] [Abstract][Full Text] [Related]
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