Genotypic and phenotypic analysis of 396 individuals with mutations in Sonic Hedgehog

Autor: Felicitas Lacbawan, Barbara K. Burton, Mary E. Norton, Erika K. Smith, Maximilian Muenke, Thomas L. Winder, Art Grix, Erich Roessler, Benjamin D. Solomon, Kelly A. Bear, Harald Gaspar, Mauricio R. Delgado, Karen Brookhyser, Ute Hehr, Ntombenhle Louisa Bhengu, Howard M. Saal, Véronique David, Daniel E. Pineda-Alvarez, Amelia A. Keaton, Nancy J. Clegg, Aimee D C Paulussen, Stavit A. Shalev, M. Anne Spence, Elizabeth Thompson, Erin E. Kanetzke, Arthur S. Aylsworth, Carlos Eduardo Steiner, Dafne Horovitz, Holly H. Ardinger, Ellen Sowry, Christèle Dubourg, Adrian Wyllie, Sylvie Odent, Joan Z. Balog, Donald W. Hadley, Dorit Lev, Sandra Mercier, Stephen R. Braddock, Sherri J. Bale, Nan Zhou, Adele Schneider, G B Schaefer, Hülya Kayserili, Sarah M. Nikkel, Richard C. Roberts

Publikováno v: Journal of Medical Genetics, 49(7), 473-479. BMJ Publishing Group
Journal of Medical Genetics
Journal of Medical Genetics, 2012, 49 (7), pp.473-9. ⟨10.1136/jmedgenet-2012-101008⟩
Journal of Medical Genetics, BMJ Publishing Group, 2012, 49 (7), pp.473-9. ⟨10.1136/jmedgenet-2012-101008⟩

Background Holoprosencephaly (HPE), the most common malformation of the human forebrain, may result from mutations in over 12 genes. Sonic Hedgehog (SHH) was the first such gene discovered; mutations in SHH remain the most common cause of nonchromoso

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5d7ae2cf04578d8379300dd86c0b0920
https://epub.uni-regensburg.de/36148/