合計: 1 |
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PMID (PMCID) | ||
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22711375 |
MIXED_SAMPLE | Infant |
Griscelli syndrome types 1 and 3: analysis of four new cases and long-term evaluation of previously diagnosed patients. | ||
Cagdas D, Ozgur TT, Asal GT, Tezcan I, Metin A, Lambert N, de Saint Basile G, Sanal O. Eur J Pediatr. 2012;171(10):1527-31. |
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The neurological deficits in Elejalde syndrome were reported as severe neurodevelopmental delay, seizures, hypotonia, and ophthalmological problems including nystagmus, diplopia, and retinal problems. |