Novel pathogenic SLC25A46 splice-site mutation causes an optic atrophy spectrum disorder

M Nguyen, I Boesten, D Hellebrekers, NM (Elvira) den Hartog, IFM Coo, HJM Smeets, M Gerards

Research output: Contribution to journalArticleAcademicpeer-review

29 Citations (Scopus)
Original languageUndefined/Unknown
Pages (from-to)121-125
Number of pages5
JournalClinical Genetics
Issue number1
Publication statusPublished - 2017

Research programs

  • EMC OR-01

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