Dominant missense variants in SREBF2 are associated with complex dermatological, neurological, and skeletal abnormalities
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Published:2024-09
Issue:9
Volume:26
Page:101174
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ISSN:1098-3600
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Container-title:Genetics in Medicine
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language:en
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Short-container-title:Genetics in Medicine
Author:
Moulton Matthew J.ORCID, Atala Kristhen, Zheng Yiming, Dutta Debdeep, Grange Dorothy K., Lin Wen-Wen, Wegner Daniel J., Wambach Jennifer A., Duker Angela L., Bober Michael B., Kratz Lisa, Wise Carol A., Oxendine Ila, Khanshour Anas, Bacino Carlos A., Balasubramanyam Ashok, Burrage Lindsay C., Chao Hsiao-Tuan, Chinn Ivan, Clark Gary D., Craigen William J., Dai Hongzheng, Emrick Lisa T., Ketkar Shamika, Lalani Seema R., Lee Brendan H., Lewis Richard A., Marom Ronit, Orengo James P., Posey Jennifer E., Potocki Lorraine, Rosenfeld Jill A., Seto Elaine, Scott Daryl A., Tarakad Arjun, Tran Alyssa A., Vogel Tiphanie P., Hubshman Monika Weisz, Worley Kim, Bellen Hugo J., Wangler Michael F., Yamamoto Shinya, Kanca Oguz, Eng Christine M., Liu Pengfei, Ward Patricia A., Behrens Edward, Falk Marni, Hassey Kelly, Izumi Kosuke, Kilich Gonench, Sullivan Kathleen, Vanderver Adeline, Zhang Zhe, Raper Anna, Jobanputra Vaidehi, Mikati Mohamad, McConkie-Rosell Allyn, Schoch Kelly, Shashi Vandana, Spillmann Rebecca C., Tan Queenie K.-G., Walley Nicole M., Beggs Alan H., Berry Gerard T., Briere Lauren C., Cobban Laurel A., Coggins Matthew, Fieg Elizabeth L., High Frances, Holm Ingrid A., Korrick Susan, Loscalzo Joseph, Maas Richard L., MacRae Calum A., Pallais J. Carl, Rao Deepak A., Rodan Lance H., Silverman Edwin K., Stoler Joan M., Sweetser David A., Walker Melissa, Douglas Jessica, Glanton Emily, Kobren Shilpa N., Kohane Isaac S., LeBlanc Kimberly, Maghiro Audrey Stephannie C., Mahoney Rachel, McCray Alexa T., Tan Amelia L.M., Dasari Surendra, Lanpher Brendan C., Lanza Ian R., Morava Eva, Oglesbee Devin, Bademci Guney, Barbouth Deborah, Bivona Stephanie, Borja Nicholas, Gonzalez Joanna M., Latchman Kumarie, Peart LéShon, Rebelo Adriana, Smith Carson A., Tekin Mustafa, Thorson Willa, Zuchner Stephan, Taylor Herman, Colley Heather A., Dayal Jyoti G., Doss Argenia L., Eckstein David J., Hutchison Sarah, Krasnewich Donna M., Mamounas Laura A., Manolio Teri A., Urv Tiina K., Acosta Maria T., D'Souza Precilla, Gropman Andrea, Macnamara Ellen F., Maduro Valerie V., Mulvihill John J., Novacic Donna, Pusey Swerdzewski Barbara N., Toro Camilo, Wahl Colleen E., Adams David R., Afzali Ben, Burke Elizabeth A., Davis Joie, Delgado Margaret, Fu Jiayu, Gahl William A., Hanchard Neil, Huang Yan, Introne Wendy, Jean-Marie Orpa, Malicdan May Christine V., Morimoto Marie, Petcharet Leoyklang, Rossignol Francis, Sabaii Marla, Solomon Ben, Tifft Cynthia J., Wolfe Lynne A., Wood Heidi, Allworth Aimee, Bamshad Michael, Beck Anita, Bennett Jimmy, Blue Elizabeth, Byers Peter, Chanprasert Sirisak, Cunningham Michael, Dipple Katrina, Doherty Daniel, Earl Dawn, Glass Ian, Hing Anne, Hisama Fuki M., Horike-Pyne Martha, Jarvik Gail P., Jarvik Jeffrey, Jayadev Suman, Kaitryn Emerald, Lam Christina, Miller Danny, Mirzaa Ghayda, Raskind Wendy, Rosenthal Elizabeth, Shelkowitz Emily, Sheppeard Sam, Stergachis Andrew, Sybert Virginia, Wener Mark, Wenger Tara, Alvarez Raquel L., Bejerano Gill, Bernstein Jonathan A., Bonner Devon, Coakley Terra R., Fisher Paul G., Goddard Page C., Halley Meghan C., Hom Jason, Kohler Jennefer N., Kravets Elijah, Martin Beth A., Marwaha Shruti, Reuter Chloe M., Ruzhnikov Maura, Sampson Jacinda B., Smith Kevin S., Sutton Shirley, Tabor Holly K., Ungar Rachel A., Wheeler Matthew T., Ashley Euan A., Byrd William E., Crouse Andrew B., Might Matthew, Nakano-Okuno Mariko, Whitlock Jordan, Butte Manish J., Corona Rosario, Dell'Angelica Esteban C., Dorrani Naghmeh, Douine Emilie D., Fogel Brent L., Huang Alden, Krakow Deborah, Loo Sandra K., Martin Martin G., Martínez-Agosto Julian A., McGee Elisabeth, Nelson Stanley F., Nieves-Rodriguez Shirley, Papp Jeanette C., Parker Neil H., Renteria Genecee, Sinsheimer Janet S., Wan Jijun, Alvey Justin, Andrews Ashley, Bale Jim, Bohnsack John, Botto Lorenzo, Carey John, Longo Nicola, Moretti Paolo, Pace Laura, Quinlan Aaron, Velinder Matt, Viskochil Dave, Marth Gabor, Bayrak-Toydemir Pinar, Mao Rong, Westerfield Monte, Bican Anna, Cassini Thomas, Corner Brian, Hamid Rizwan, Neumann Serena, Phillips John A., Rives Lynette, Robertson Amy K., Ezell Kimberly, Cogan Joy D., Hayes Nichole, Kiley Dana, Sisco Kathy, Wambach Jennifer, Wegner Daniel, Baldridge Dustin, Cole F. Sessions, Pak Stephen, Schedl Timothy, Shin Jimann, Solnica-Krezel Lilianna, Wangler Michael F., Yamamoto Shinya, Cole F. Sessions, Rios Jonathan, Bellen Hugo J.ORCID
Funder
NIA NIH Office of the Director National Institutes of Health NINDS National Human Genome Research Institute
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