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J Genet Genomics. 2015 Feb 20;42(2):79-81. doi: 10.1016/j.jgg.2014.12.004. Epub 2015 Jan 10.

Crowdfunding effort identifies the causative mutation in a patient with nystagmus, microcephaly, dystonia and hypomyelination.

Author information

1
Sackler School of Medicine, Tel Aviv University, Tel Aviv 69978, Israel.
2
Sackler School of Medicine, Tel Aviv University, Tel Aviv 69978, Israel; Metabolic-Neurogenetic Clinic, Wolfson Medical Center, Holon 58100, Israel; Institute of Medical Genetics, Wolfson Medical Center, Holon 58100, Israel.
3
Sackler School of Medicine, Tel Aviv University, Tel Aviv 69978, Israel; Metabolic-Neurogenetic Clinic, Wolfson Medical Center, Holon 58100, Israel; Pediatric Neurology Unit, Wolfson Medical Center, Holon 58100, Israel.
4
Sackler School of Medicine, Tel Aviv University, Tel Aviv 69978, Israel; Metabolic-Neurogenetic Clinic, Wolfson Medical Center, Holon 58100, Israel; Molecular Genetic Laboratory, Wolfson Medical Center, Holon 58100, Israel.
5
Sackler School of Medicine, Tel Aviv University, Tel Aviv 69978, Israel. Electronic address: nshomron@post.tau.ac.il.
PMID:
25697102
DOI:
10.1016/j.jgg.2014.12.004
[Indexed for MEDLINE]

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