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Expanding the Genotypic and Phenotypic Spectrum in a Diverse Cohort of 104 Individuals with Wiedemann-Steiner Syndrome

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

Molecular Genetics and Metabolism（2021）

引用 31|浏览55
关键词
hypertrichosis,KMT2A,MLL1,syndromic intellectual disability,syndromic short stature,Wiedemann&#8208,Steiner syndrome
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