Exome sequencing identifies a de novo SCN2A mutation in a patient with intractable seizures, severe intellectual disability, optic atrophy, muscular hypotonia, and brain abnormalities
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A. Hoischen | J. Veltman | K. Lohmann | C. Gilissen | G. Gillessen‐kaesbach | J. Klepper | Irina Hüning | Anna-Lena Baasch | G. Gillessen‐Kaesbach | I. Hüning