Article
Nuclear/cytoplasmic transport defects in BBS6 underlie congenital heart disease through perturbation of a chromatin remodeling protein.
PLoS genetics - 1 Jul 2017
Scott Charles Anthony, Marsden Autumn N, Rebagliati Michael R, Zhang Qihong, Chamling Xitiz, Searby Charles C, Baye Lisa M, Sheffield Val C, Slusarski Diane C
Abstract excerpt
Mutations in BBS6 cause two clinically distinct syndromes, Bardet-Biedl syndrome (BBS), a syndrome caused by defects in cilia transport and function, as well as McKusick-Kaufman syndrome, a genetic disorder characterized by congenital heart defects. Congenital heart defects are rare in BBS, and McKusick-Kaufman syndrome patients do not develop retinitis pigmentosa. Therefore, the McKusick-Kaufman syndrome allele...
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