Crowdfunding Effort Identifies the Causative Mutation in a Patient with Nystagmus, Microcephaly, Dystonia and Hypomyelination

Ofer Isakov^a,
Dorit Lev^{a, b, c},
Lubov Blumkin^{a, b, d},
Gershon Celniker^a,
Esther Leshinsky-Silver^{a, b, e},
Noam Shomron^{a
, ,}

a.
Sackler School of Medicine, Tel Aviv University, Tel Aviv 69978, Israel
b.
Metabolic-Neurogenetic Clinic, Wolfson Medical Center, Holon 58100, Israel
c.
Institute of Medical Genetics, Wolfson Medical Center, Holon 58100, Israel
d.
Pediatric Neurology Unit, Wolfson Medical Center, Holon 58100, Israel
e.
Molecular Genetic Laboratory, Wolfson Medical Center, Holon 58100, Israel

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Corresponding author: E-mail address: nshomron@post.tau.ac.il (Noam Shomron)

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参考文献(17)

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