Dominant Missense Variants in SREBF2 are Associated with Complex Dermatological, Neurological, and Skeletal Abnormalities

Yiming Zheng,Debdeep Dutta,Dorothy Grange,Wen‐Wen Lin,Daniel Wegner,Jennifer Wambach,Angela Duker,Michael Bober,Lisa Kratz,Carol Wise,Ila Oxendine,Anas Khanshour,Carlos Bacino,Ashok Balasubramanyam,Lindsay Burrage,Hsiao-Tuan Chao,Iván Chinn,Gary Clark,William Craigen,Hongzheng Dai,Lisa Emrick,Shamika Ketkar,Mario Saporta,Brendan Lee,Richard Lewis,James Orengo,Jennifer Posey,Lorraine Potocki,Jill Rosenfeld,Elaine Seto,Daryl Scott,Arjun Tarakad,Alyssa Tran,Tiphanie Vogel,Monika Hubshman,Kim Worley,Hugo Bellen,Michael Wangler,Shinya Yamamoto,Oguz Kanca,Christine Eng,Pengfei Liu,Patricia Ward,Edward Behrens,Marni Falk,Kelly Hassey,Kosuke Izumi,Gonench Kilich,Kathleen Sullivan,Adeline Vanderver,Zhe Zhang,Anna Raper,Vaidehi Jobanputra,Mohamad Mikati,Allyn McConkie‐Rosell,Kelly Schoch,Vandana Shashi,Qingyuan Tan,Nicole Walley,Alan Beggs,Gerard Berry,Lauren Briere,Laurel Cobban,Matthew Coggins,Elizabeth Fieg,Frances High,Ingrid Holm,Susan Korrick,Joseph Loscalzo,Richard Maas,Calum MacRae,J. Pallais,Deepak Rao,Edwin Silverman,Joan Stoler,David Sweetser,Melissa Walker,Jessica Douglas,Emily Kelley,Shilpa Kobren,Isaac Kohane,Kimberly LeBlanc,Audrey Maghiro,Rachel Mahoney,Alexa McCray,Amelia Tan,Surendra Dasari,Brendan Lanpher,Ian Lanza,Éva Morava,Devin Oglesbee,Güney Bademci,Deborah Barbouth,Stephanie Bivona,Nicholas Borja,Joanna Gonzalez,Kumarie Latchman,LéShon Peart,Stephan Züchner,Carson Smith,Mustafa Tekin,Willa Thorson,Herman Taylor,Heather Colley,Jyoti Dayal,Argenia Doss,David Eckstein,Sarah Hutchison,Donna Krasnewich,Laura Mamounas,Teri Manolio,Tiina Urv,Maria Acosta,Precilla D’Souza,Andrea Gropman,Valerie Maduro,John Mulvihill,Donna Novacic,Barbara Swerdzewski,Camilo Toro,Colleen Wahl,David Adams,Ben Afzali,Elizabeth Burke,Joie Davis,Margaret Delgado,Jiayu Fu,William Gahl,Neil Hanchard,Yan Huang,Wendy Introne,Orpa Jean-Marie,May Malicdan,Marie Morimoto,Leoyklang Petcharet,Francis Rossignol,Marla Sabaii,Ben Solomon,Cynthia Tifft,Lynne Wolfe,Heidi Wood,Aimee Allworth,Michael Bamshad,Anita Beck,Jimmy Bennett,Elizabeth Blue,Peter Byers,Sirisak Chanprasert,Michael Cunningham,Katrina Dipple,Daniel Doherty,Dawn Earl,I. Glass,Anne Hing,Fuki Hisama,Martha Horike‐Pyne,Gail Jarvik,Jeffrey Jarvik,Suman Jayadev,Emerald Kaitryn,Christina Lam,Danny Miller,Ghayda Mirzaa,Wendy Raskind,Elizabeth Rosenthal,Emily Shelkowitz,Sam Sheppeard,Andrew Stergachis,Virginia Sybert,Mark Wener,Tara Wenger,Raquel Alvarez,Gill Bejerano,Jonathan Bernstein,Devon Bonner,Terra Coakley,Paul Fisher,P Goddard,Meghan Halley,Jason Hom,Jennefer Kohler,Elijah Kravets,Beth Martin,Shruti Marwaha,Chloe Reuter,Maura Ruzhnikov,Jacinda Sampson,Kevin Smith,Shirley Sutton,Holly Tabor,Rachel Ungar,Matthew Wheeler,Euan Ashley,William Byrd,Andrew Crouse,Mariko Nakano‐Okuno,Emilie Douine,Manish Butte,Rosario Corona,Esteban Dell’Angelica,Naghmeh Dorrani,Brent Fogel,Alden Huang,Deborah Krakow,Sandra Loo,Martin Martin,Julián Martínez-Agosto,Elisabeth McGee,Stanley Nelson,Shirley Nieves‐Rodriguez,Jeanette Papp,Neil Parker,Genecee Renteria,Janet Sinsheimer,Jijun Wan,Justin Alvey,Ashley Andrews,Jim Bale,John Bohnsack,Lorenzo Botto,John Carey,Nicola Longo,Paolo Moretti,Laura Pace,Aaron Quinlan,Matt Velinder,Dave Viskochil,Gábor Marth,Pinar Bayrak‐Toydemir,Ruoyu Mao,Monte Westerfield,Anna Bican,Thomas Cassini,Brian Corner,Rizwan Hamid,Sabine Neumann,John Phillips,Lynette Rives,Amy Robertson,Kimberly Ezell,Joy Cogan,Nichole Hayes,Dana Kiley,Kathy Sisco,Dustin Baldridge,F. Cole,Ping Au,Timothy Schedl,Jimann Shin,Lilianna Solnica‐Krezel,Jonathan Rios