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A noncoding, regulatory mutation implicates HCFC1 in nonsyndromic intellectual disability.

Am J Hum Genet 91:694-702 (2012)
DOI:10.1016/j.ajhg.2012.08.011

Yu HC, Sloan JL, Scharer G, Brebner A, Quintana AM, Achilly NP, Manoli I, Coughlin CR 2nd, Geiger EA, Schneck U, Watkins D, Suormala T, Van Hove JL, Fowler B, Baumgartner MR, Rosenblatt DS, Venditti CP, Shaikh TH

An X-linked cobalamin disorder caused by mutations in transcriptional coregulator HCFC1.

Am J Hum Genet 93:506-14 (2013)
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