Refinement of a 400-kb Critical Region Allows Genotypic Differentiation between Isolated Lissencephaly, Miller-Dieker Syndrome, and Other Phenotypes Secondary to Deletions of 17p13...

Por Cardoso, Carlos, Leventer, Richard J., Ward, Heather L., Toyo-oka, Kazuhito, Chung, June, Gross, Alyssa, Martin, Christa L., Allanson, Judith, Pilz, Daniela T., Olney, Ann H., Mutchinick, Osvaldo M., Hirotsune, Shinji, Wynshaw-Boris, Anthony, Dobyns, William B., Ledbetter, David H.
Publicado em 2003

A specific mutation in TBL1XR1 causes Pierpont syndrome

Por Heinen, Charlotte A, Jongejan, Aldo, Watson, Peter J, Redeker, Bert, Boelen, Anita, Boudzovitch-Surovtseva, Olga, Forzano, Francesca, Hordijk, Roel, Kelley, Richard, Olney, Ann H, Pierpont, Mary Ella, Schaefer, G Bradley, Stewart, Fiona, van Trotsenburg, A S Paul, Fliers, Eric, Schwabe, John W R, Hennekam, Raoul C
Publicado no J Med Genet (2016)