Expanding the genotypic and phenotypic spectrum in a diverse cohort of 104 individuals with Wiedemann-Steiner syndrome

Autor: Sheppard, Sarah E, Campbell, Ian M, Harr, Margaret H, Gold, Nina, Li, Dong, Bjornsson, Hans T, Cohen, Julie S, Fahrner, Jill A, Fatemi, Ali, Harris, Jacqueline R, Nowak, Catherine, Stevens, Cathy A, Grand, Katheryn, Au, Margaret, Graham, John M, Sanchez-Lara, Pedro A, Campo, Miguel Del, Jones, Marilyn C, Abdul-Rahman, Omar, Alkuraya, Fowzan S, Bassetti, Jennifer A, Bergstrom, Katherine, Bhoj, Elizabeth, Dugan, Sarah, Kaplan, Julie D, Derar, Nada, Gripp, Karen W, Hauser, Natalie, Innes, A Micheil, Keena, Beth, Kodra, Neslida, Miller, Rebecca, Nelson, Beverly, Nowaczyk, Malgorzata J, Rahbeeni, Zuhair, Ben-Shachar, Shay, Shieh, Joseph T, Slavotinek, Anne, Sobering, Andrew K, Abbott, Mary-Alice, Allain, Dawn C, Amlie-Wolf, Louise, Au, Ping Yee Billie, Bedoukian, Emma, Beek, Geoffrey, Barry, James, Berg, Janet, Bernstein, Jonathan A, Cytrynbaum, Cheryl, Chung, Brian Hon-Yin, Donoghue, Sarah, Dorrani, Naghmeh, Eaton, Alison, Flores-Daboub, Josue A, Dubbs, Holly, Felix, Carolyn A, Fong, Chin-To, Fung, Jasmine Lee Fong, Gangaram, Balram, Goldstein, Amy, Greenberg, Rotem, Ha, Thoa K, Hersh, Joseph, Izumi, Kosuke, Kallish, Staci, Kravets, Elijah, Kwok, Pui-Yan, Jobling, Rebekah K, Knight Johnson, Amy E, Kushner, Jessica, Lee, Bo Hoon, Levin, Brooke, Lindstrom, Kristin, Manickam, Kandamurugu, Mardach, Rebecca, McCormick, Elizabeth, McLeod, D Ross, Mentch, Frank D, Minks, Kelly, Muraresku, Colleen, Nelson, Stanley F, Porazzi, Patrizia, Pichurin, Pavel N, Powell-Hamilton, Nina N, Powis, Zoe, Ritter, Alyssa, Rogers, Caleb, Rohena, Luis, Ronspies, Carey, Schroeder, Audrey, Stark, Zornitza, Starr, Lois, Stoler, Joan, Suwannarat, Pim, Velinov, Milen, Weksberg, Rosanna, Wilnai, Yael, Zadeh, Neda, Zand, Dina J, Falk, Marni J

Publikováno v: American journal of medical genetics. Part A, vol 185, iss 6

Wiedemann-Steiner syndrome (WSS) is an autosomal dominant disorder caused by monoallelic variants in KMT2A and characterized by intellectual disability and hypertrichosis. We performed a retrospective, multicenter, observational study of 104 individu

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=od_______325::4b64feedd2f1cc2a4ed41529d8be5d4e
https://escholarship.org/uc/item/0xp4224d

Reduced elastogenesis: a clue to the arteriosclerosis and emphysematous changes in Schimke immuno-osseous dysplasia?

Autor: Morimoto, Marie Yu, Zhongxin Stenzel, Peter Clewing, J. Marietta Najafian, Behzad Mayfield, Christy Hendson, Glenda and Weinkauf, Justin G. Gormley, Andrew K. Parham, David M. and Ponniah, Umakumaran Andre, Jean-Luc Asakura, Yumi and Basiratnia, Mitra Bogdanovic, Radovan Bokenkamp, Arend and Bonneau, Dominique Buck, Anna Charrow, Joel Cochat, Pierre and Cordeiro, Isabel Deschenes, Georges Fenkci, M. Semin and Frange, Pierre Fruend, Stefan Fryssira, Helen and Guillen-Navarro, Encarna Keller, Kory Kirmani, Salman and Kobelka, Christine Lamfers, Petra Levtchenko, Elena Lewis, David B. Massella, Laura McLeod, D. Ross Milford, David V. and Nobili, Francois Saraiva, Jorge M. Semerci, C. Nur and Shoemaker, Lawrence Stajic, Natasa Stein, Anja Taha, Doris and Wand, Dorothea Zonana, Jonathan Luecke, Thomas Boerkoel, Cornelius F.

Background: Arteriosclerosis and emphysema develop in individuals with Schimke immuno-osseous dysplasia (SIOD), a multisystem disorder caused by biallelic mutations in SMARCAL1 (SWI/SNF-related, matrix-associated, actin-dependent regulator of chromat

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=od______2127::8969a5a9b7faa6f86dbb5d616316ca25
https://pergamos.lib.uoa.gr/uoa/dl/object/uoadl:3153808

Tento výsledek nelze pro nepřihlášené uživatele zobrazit.
K zobrazení výsledku je třeba se přihlásit.

Medical Genetics: Principles and Practice

Autor: McLeod, D. Ross

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmc_________::0c89dd6d48efbff533be980e982d5c4c
https://europepmc.org/articles/PMC1337716/

Tento výsledek nelze pro nepřihlášené uživatele zobrazit.
K zobrazení výsledku je třeba se přihlásit.