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Characterization of human disease phenotypes associated with mutations in TREX1, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1, ADAR, and IFIH1.
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Au-Kline Syndrome.
Au PYB, McNiven V, Phillips L, Innes AM, Kline AD.
2019 Apr 18 [updated 2024 Feb 1]. In: Adam MP, Bick S, Mirzaa GM, Pagon RA, Wallace SE, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2026.
TANGO2 Deficiency.
Miyake CY, Burrage L, Glinton K, Houck K, Hoyos-Martinez A, Graham B, Yang Y, Rawls-Castillo B, Scaglia F, Soler-Alfonso C, Lalani SR.
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Œdème à godet généralisé chez un patient présentant une myocardiopathie dilatée secondaire à une hypothyroïdie.
Matsuura N, Saitou K, Hidaka H.
CMAJ. 2023 Mar 14;195(10):E385-E389. doi: 10.1503/cmaj.220861-f.
[Hypothyroid dilated cardiomyopathy].
Bezdah L, Slimène H, Kammoun M, Haddad A, Belhani A.
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Alström Syndrome.
Paisey RB, Steeds R, Barrett T, Williams D, Geberhiwot T, Gunay-Aygun M.
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Peripheral edema.
Cho S, Atwood JE.
Am J Med. 2002 Nov;113(7):580-6. doi: 10.1016/s0002-9343(02)01322-0.
Single Large-Scale Mitochondrial DNA Deletion Syndromes.
Goldstein A, Falk MJ.
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Cardiomyopathy in a male with cystinosis.
Edelman M, Silverstein D, Strom J, Factor SM.
Cardiovasc Pathol. 1997 Jan;6(1):43-7. doi: 10.1016/S1054-8807(96)00047-6.
