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Year | Number of Results |
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1987 | 1 |
2005 | 1 |
2024 | 0 |
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A syndrome with juvenile cataract, cerebellar atrophy, mental retardation and myopathy.
Neuropediatrics. 1987 Aug;18(3):164-9. doi: 10.1055/s-2008-1052473.
Neuropediatrics. 1987.
PMID: 3683758
The gene disrupted in Marinesco-Sjögren syndrome encodes SIL1, an HSPA5 cochaperone.
Anttonen AK, Mahjneh I, Hämäläinen RH, Lagier-Tourenne C, Kopra O, Waris L, Anttonen M, Joensuu T, Kalimo H, Paetau A, Tranebjaerg L, Chaigne D, Koenig M, Eeg-Olofsson O, Udd B, Somer M, Somer H, Lehesjoki AE.
Anttonen AK, et al.
Nat Genet. 2005 Dec;37(12):1309-11. doi: 10.1038/ng1677. Epub 2005 Nov 13.
Nat Genet. 2005.
PMID: 16282978
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