A recurrent mutation in MED12 leading to R961W causes Opitz-Kaveggia syndrome.

Risheg, Hiba; Graham, John M; Clark, Robin D; Rogers, R Curtis; Opitz, John M; Moeschler, John B; Peiffer, Andreas P; May, Melanie; Joseph, Sumy M; Jones, Julie R; Stevenson, Roger E; Schwartz, Charles E; Friez, Michael J

Risheg, Hiba; Graham, John M; Clark, Robin D; Rogers, R Curtis; Opitz, John M; Moeschler, John B; Peiffer, Andreas P; May, Melanie; Joseph, Sumy M; Jones, Julie R; Stevenson, Roger E; Schwartz, Charles E; Friez, Michael J.

Affiliation

Risheg H; Greenwood Genetic Center, Greenwood, South Carolina 29646, USA.

Nat Genet ; 39(4): 451-3, 2007 Apr.

Article in En | MEDLINE | ID: mdl-17334363

Subject(s)

Genetic Diseases, X-Linked/genetics; Mutation; Receptors, Thyroid Hormone/genetics; Amino Acid Substitution/genetics; Arginine/genetics; Family; Female; Humans; Intellectual Disability/genetics; Male; Mediator Complex; Muscle Hypotonia/genetics; Pedigree; Syndrome; Tryptophan/genetics

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Database: MEDLINE Main subject: Receptors, Thyroid Hormone / Genetic Diseases, X-Linked / Mutation Type of study: Etiology_studies Limits: Female / Humans / Male Language: En Journal: Nat Genet Journal subject: GENETICA MEDICA Year: 2007 Type: Article Affiliation country: United States

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