MED12

Publications

Bouazzi H et al. Nonsyndromic X-linked intellectual disability in three brothers with a novel MED12 missense mutation. Clin Case Rep. 2015;3:604-9.  PMID: 26273451.

Clark R et al. FG syndrome, an X-linked multiple congenital anomaly syndrome: the clinical phenotype and an algorithm for diagnostic testing. Genet Med. 2009;11:769-75.  PMID: 19938245.

Graham JM Jr et al. Behavior of 10 patients with FG syndrome (Opitz-Kaveggia syndrome) and the p.R961W mutation in the MED12 gene. Am J Med Genet. 2008;146A:3011-7.  PMID: 18973276.

Isidor B et al. Blepharophimosis, short humeri, developmental delay and hirschsprung disease: expanding the phenotypic spectrum of MED12 mutations. Am J Med Genet A. 2014;164A:1821-5.  PMID: 24715367.

Langley KG et al. Beyond Ohdo syndrome: A familial missense mutation broadens the MED12 spectrum. Am J Med Genet A. 2015;167A:3180-5.  PMID: 26338144.

Lesca G et al. Clinical and neurocognitive characterization of a family with a novel MED12 gene frameshift mutation. Am J Med Genet A. 2013;161A:3063-71.  PMID: 24039113.

Lujan JE et al. A form of X-linked mental retardation with marfanoid habitus. Am J Med Genet. 1984;17:311-22.  PMID: 6711603.

Lyons MJ et al. Clinical experience in the evaluation of 30 patients with a prior diagnosis of FG syndrome. J Med Genet. 2009;46:9-13.  PMID: 18805826.

Maat-Kievit A et al. Two additional cases of the Ohdo blepharophimosis syndrome. Am J Med Genet. 1993;47:901-6.  PMID: 8279489.

Risheg H et al. A recurrent mutation in MED12 leading to R961W causes Opitz-Kaveggia syndrome. Nat Genet. 2007;39:451-3.  PMID: 17334363.

Rump P et al. A novel mutation in MED12 causes FG syndrome (Opitz-Kaveggia syndrome). Clin Genet. 2011;79:183-8.  PMID: 20507344.

Schwartz CE et al. The original Lujan syndrome family has a novel missense mutation (p.N1007S) in the MED12 gene. J Med Genet. 2007;44:472-7.  PMID: 17369503.

Vulto-van Silfhout AT et al. Mutations in MED12 cause X-linked Ohdo syndrome. Am J Hum Genet. 2013;92:401-6.  PMID: 23395478.

Yamamoto T et al. A novel MED12 mutation associated with nonspecific X-linked intellectual disability. Hum Genome Var. 2015;2:15018.  PMID: 27081531.