Condition: Leukodystrophy, Hypomyelinating, 2


rs587776888 in GJC2 gene and Leukodystrophy, Hypomyelinating, 2 PMID 20695017 2010 Disrupted SOX10 regulation of GJC2 transcription causes Pelizaeus-Merzbacher-like disease.

PMID 24374284 2014 GJC2 promoter mutations causing Pelizaeus-Merzbacher-like disease.

PMID 27780564 2016 Corrigendum to "GJC2 promoter mutations causing Pelizaeus-Merzbacher-like disease" [Mol. Genet. Metab. 111 (2014) 393-398].

PMID 15192806 2004 Mutations in the gene encoding gap junction protein alpha 12 (connexin 46.6) cause Pelizaeus-Merzbacher-like disease.