Zobrazeno 1 - 2
of 2
pro vyhledávání: '"Patti Caudill"'
Autor:
Chris Oliver, Laura Groves, Blake D. Hansen, Masoud Salehi, Shaydah Kheradmand, Cheri S. Carrico, Patti Caudill, Mark Mattingly, Dale Dorsett, Stephenson Chea, Vijay Pratap Singh, Ian D. Krantz, Sylvia Huisman, Matthew A. Deardorff, Antonie D. Kline
Publikováno v:
American Journal of Medical Genetics Part A. 188:1005-1014
Cornelia de Lange syndrome (CdLS) is a spectrum disorder due to variants in genes of the cohesin protein complex. The following abstracts are from the Cornelia de Lange Syndrome Scientific and Educational Symposium held virtually in October 2020. Asp
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8fba88a08a5cca0354f8fa3e280291fb
https://doi.org/10.1002/ajmg.a.62591
https://doi.org/10.1002/ajmg.a.62591
Autor:
Vijay Pratap Singh, Stephenson Chea, Toyonori Sakata, Julia O'Connor, Jennifer L. Gerton, Julia A. Horsfield, Kristin W. Barañano, Gholson J. Lyon, Ian D. Krantz, Bryan E. McGill, Richard E. Haaland, Patti Caudill, Douglas K. Clemens, Dale Dorsett, Masashige Bando, Antonie D. Kline, Cheri S. Carrico, Olivia L. Katz, Katsuhiko Shirahige, Suhas S.P. Rao, Aila K. Dommestrup, Sarah E. Raible, Antonio Musio, Anne L. Calof, Valentina Massa, Marco A. Grados
Publikováno v:
Am J Med Genet A
Cornelia de Lange Syndrome (CdLS), due to mutations in genes of the cohesin protein complex, is described as a disorder of transcriptional regulation. Phenotypes in this expanding field include short stature, microcephaly, intellectual disability, va
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::86395ecc4bd39c11de89925d9bc11c35
https://europepmc.org/articles/PMC9987326/
https://europepmc.org/articles/PMC9987326/
