DOI: 10.1055/s-00029030

Journal of Pediatric Neurology

References

Haack TB, Hogarth P, Kruer MC. et al.
Exome sequencing reveals de novo WDR45 mutations causing a phenotypically distinct, X-linked dominant form of NBIA.

Am J Hum Genet 2012;
91 (06) 1144-1149

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