Article
Novel mutations in BCOR in three patients with oculo-facio-cardio-dental syndrome, but none in Lenz microphthalmia syndrome.
European journal of human genetics : EJHG - 1 May 2005
Horn Denise, Chyrek Magdalena, Kleier Saskia, Lüttgen Sabine, Bolz Hanno, Hinkel Georg-Klaus, Korenke Georg Christoph, Riess Angelika, Schell-Apacik Can, Tinschert Sigrid, Wieczorek Dagmar, Gillessen-Kaesbach Gabriele, Kutsche Kerstin
Abstract excerpt
Oculo-facio-cardio-dental (OFCD) syndrome is a rare X-linked dominant condition with male lethality characterized by microphthalmia, congenital cataracts, facial dysmorphic features, congenital heart defects, and dental anomalies. Mutations in BCOR (BCL6 co-repressor) located in Xp11.4 have been described to cause OFCD syndrome. Lenz microphthalmia syndrome is inherited in an X-linked recessive pattern comprising...
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