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Dominant missense variants in SREBF2 are associated with complex dermatological, neurological, and skeletal abnormalities

2024; Elsevier BV; Volume: 26; Issue: 9 Linguagem: Inglês

10.1016/j.gim.2024.101174

1530-0366

Matthew J. Moulton, Kristhen N. Atala, Yiming Zheng, Debdeep Dutta, Dorothy K. Grange, Wen‐Wen Lin, Daniel Wegner, Jennifer Wambach, Angela L. Duker, Michael B. Bober, Lisa E. Kratz, Carol A. Wise, Ila Oxendine, Anas M. Khanshour, Carlos A. Bacino, Ashok Balasubramanyam, Lindsay C. Burrage, Hsiao-Tuan Chao, Iván K. Chinn, Gary Clark, William J. Craigen, Hongzheng Dai, Lisa Emrick, Shamika Ketkar, Seema R. Lalani, Brendan Lee, Richard A. Lewis, Ronit Marom, James P. Orengo, Jennifer E. Posey, Lorraine Potocki, Jill A. Rosenfeld, Elaine Seto, Daryl A. Scott, Arjun Tarakad, Alyssa A. Tran, Tiphanie P. Vogel, Monika Weisz Hubshman, Kim C. Worley, Hugo J. Bellen, Michael F. Wangler, Shinya Yamamoto, Oguz Kanca, Christine M. Eng, Pengfei Liu, Patricia A. Ward, Edward M. Behrens, Marni J. Falk, Kelly Hassey, Kosuke Izumi, Gonench Kilich, Kathleen E. Sullivan, Adeline Vanderver, Zhe Zhang, Anna Raper, Vaidehi Jobanputra, Mohamad A. Mikati, Allyn McConkie‐Rosell, Kelly Schoch, Vandana Shashi, Rebecca C. Spillmann, Queenie K.‐G. Tan, Sophie Nicole, Alan H. Beggs, Gerard T. Berry, Lauren C. Briere, Laurel A. Cobban, Matthew Coggins, Elizabeth L. Fieg, Frances A. High, Ingrid A. Holm, Susan Korrick, Joseph Loscalzo, Richard L. Maas, Calum A. MacRae, J. Carl Pallais, Stephen C. Pak, Lance H. Rodan, Edwin K. Silverman, Joan M. Stoler, David A. Sweetser, Melissa Walker, Jessica Douglas, Emily Glanton, Shilpa N. Kobren, Isaac S. Kohane, Kimberly LeBlanc, Audrey Stephannie Maghiro, Rachel Mahoney, Alexa T. McCray, Amelia L.M. Tan, Surendra Dasari, Brendan C. Lanpher, Ian R. Lanza, Éva Morava, Devin Oglesbee, Güney Bademci, Deborah Barbouth, Stephanie Bivona, Nicholas A. Borja, Joanna M. Gonzalez, Kumarie Latchman, LéShon Peart, Adriana P. Rebelo, Carson Smith, Mustafa Tekin, Willa Thorson, Stephan Züchner, Herman A. Taylor, Heather A. Colley, Jyoti G. Dayal, Argenia L. Doss, David J. Eckstein, Sarah Hutchison, Donna M. Krasnewich, Laura A. Mamounas, Teri A. Manolio, Tiina K. Urv, Maria T. Acosta, Precilla D’Souza, Andrea Gropman, Ellen F. Macnamara, Valerie V. Maduro, John J. Mulvihill, Donna Novacic, Barbara N. Pusey Swerdzewski, Camilo Toro, Colleen E. Wahl, David R. Adams, Ben Afzali, Elizabeth A. Burke, Joie Davis, Margaret Delgado, Jiayu Fu, William A. Gahl, Neil A. Hanchard, Yan Huang, Wendy J. Introne, Orpa Jean-Marie, May Christine V. Malicdan, Marie Morimoto, Leoyklang Petcharet, Francis Rossignol, Marla Sabaii, Ben Solomon, Cynthia J. Tifft, Lynne A. Wolfe, Heidi Wood, Aimee Allworth, Michael Bamshad, Anita Beck, Jimmy Bennett, Elizabeth Blue, Peter H. Byers, Sirisak Chanprasert, Michael L. Cunningham, Katrina M. Dipple, Daniel Doherty, Dawn Earl, I. S. Glass, Anne Hing, Fuki M. Hisama, Martha Horike‐Pyne, Gail P. Jarvik, Jeffrey G. Jarvik, Suman Jayadev, Emerald Kaitryn, Christina Lam, Danny E. Miller, Ghayda Mirzaa, Wendy H. Raskind, Elizabeth M. Rosenthal, Emily Shelkowitz, Sam Sheppeard, Andrew B. Stergachis, Virginia P. Sybert, Mark H. Wener, Tara Wenger, Raquel L. Alvarez, Gill Bejerano, Jonathan A. Bernstein, Devon Bonner, Terra R. Coakley, Paul G. Fisher, Pagé C. Goddard, Meghan C. Halley, Jason Hom, Jennefer N. Kohler, Elijah Kravets, Beth A. Martin, Shruti Marwaha, Chloe M. Reuter, Maura Ruzhnikov, Jacinda B. Sampson, Kevin S. Smith, Shirley Sutton, Holly K. Tabor, Rachel A. Ungar, Matthew T. Wheeler, Euan A. Ashley, William E. Byrd, Andrew B. Crouse, Matthew Might, Mariko Nakano‐Okuno, Jordan Whitlock, Manish J. Butte, Rosario I. Corona, Esteban C. Dell’Angelica, Naghmeh Dorrani, Emilie D. Douine, Brent L. Fogel, Alden Huang, Deborah Krakow, Sandra K. Loo, Martin G. Martin, Julián A. Martínez-Agosto, Elisabeth McGee, Stanley F. Nelson, Shirley Nieves‐Rodriguez, Jeanette C. Papp, Neil H. Parker, Genecee Renteria, Janet S. Sinsheimer, Jijun Wan, Justin Alvey, Ashley Andrews, Jim Bale, John Bohnsack, Lorenzo Botto, John C. Carey, Nicola Longo, Paolo Moretti, Laura Pace, Aaron R. Quinlan, Matt Velinder, Dave Viskochil, Gábor Marth, Pınar Bayrak‐Toydemir, Rong Mao, Monte Westerfield, Anna Bican, Thomas Cassini, Brian Corner, Rizwan Hamid, Serena Neumann, John A. Phillips, Lynette Rives, Amy K. Robertson, Kimberly Ezell, Joy D. Cogan, Nichole Hayes, Dana Kiley, Kathy Sisco, Jennifer Wambach, Daniel Wegner, Dustin Baldridge, F. Sessions Cole, Stephen Pak, Timothy Schedl, Jimann Shin, Lilianna Solnica‐Krezel, Michael F. Wangler, Shinya Yamamoto, F. Sessions Cole, Jonathan J. Rios, Hugo J. Bellen,

RNA Research and Splicing