Behr Early Onset Optic Atrophy Syndromes
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References
Felicio AC, Godeiro-Junior C, Alberto LG, Pinto AP, Sallum JM, Teive HG, Barsottini OG. Familial Behr syndrome-like phenotype with autosomal dominant inheritance. Parkinsonism Relat Disord. 2008;14(4):370-2
PubMedID: 17977780
Sheffer RN, Zlotogora J, Elpeleg ON, Raz J, Ben-Ezra D. Behr's syndrome and 3-methylglutaconic aciduria. Am J Ophthalmol. 1992 Oct 15;114(4):494-7
PubMedID: 1384336
Anikster Y, Kleta R, Shaag A, Gahl WA, Elpeleg O. Type III 3-methylglutaconic aciduria (optic atrophy plus syndrome, or Costeff optic atrophy syndrome): identification of the OPA3 gene and its founder mutation in Iraqi Jews. Am J Hum Genet. 2001 Dec;69(6):1218-24.
PubMedID: 11668429