Etiology
Rocatcher A,
Desquiret-Dumas V,
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Brain
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Clin Genet
2005 Oct;68(4):287-301.
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Diagnosis
Lenaers G,
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Brain
2023 Aug 1;146(8):3156-3161.
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Klopstock T,
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Stenton SL,
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Therapy
Hu JL,
Hsu CC,
Hsiao YJ,
Lin YY,
Lai WY,
Liu YH,
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Ko YL,
Tsai ML,
Tseng HC,
Chien Y,
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J Chin Med Assoc
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Prognosis
Zou XH,
Guo XX,
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Clinical prediction guides
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Ophthalmic Genet
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Neuhann T,
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Qu J,
Wang Y,
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Acta Haematol
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Richard M,
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Hum Mol Genet
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