Krantz ID

Cohesin embraces new phenotypes.

Nat Genet 46:1157-8 (2014)
DOI:10.1038/ng.3123

Chetaille P, Preuss C, Burkhard S, Cote JM, Houde C, Castilloux J, Piche J, Gosset N, Leclerc S, Wunnemann F, Thibeault M, Gagnon C, Galli A, Tuck E, Hickson GR, El Amine N, Boufaied I, Lemyre E, de Santa Barbara P, Faure S, Jonzon A, Cameron M, Dietz HC, Gallo-McFarlane E, Benson DW, Moreau C, Labuda D, Zhan SH, Shen Y, Jomphe M, Jones SJ, Bakkers J, Andelfinger G

Mutations in SGOL1 cause a novel cohesinopathy affecting heart and gut rhythm.

Nat Genet 46:1245-9 (2014)
DOI:10.1038/ng.3113