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

Matthew J. Moulton(Baylor College of Medicine), Kosuke Izumi(Children's Hospital of Philadelphia), Carlos A. Bacino(Baylor College of Medicine), Dorothy K. Grange(Washington University in St. Louis), Iván K. Chinn(Baylor College of Medicine), Ashok Balasubramanyam, Daniel Wegner(University of Tennessee Health Science Center), Kim C. Worley(Baylor College of Medicine), Hugo J. Bellen(Baylor College of Medicine), Shamika Ketkar(Washington University in St. Louis), Tiphanie P. Vogel(Baylor College of Medicine), Lindsay C. Burrage(Baylor College of Medicine), Lorraine Potocki(Texas Children's Hospital), Michael B. Bober(Alfred I. duPont Hospital for Children), Anas M. Khanshour(Texas Scottish Rite Hospital for Children), James P. Orengo, Debdeep Dutta(Baylor College of Medicine), Brendan Lee(Baylor College of Medicine), Jill A. Rosenfeld(Baylor College of Medicine), Kelly Hassey(Children's Hospital of Philadelphia), Yiming Zheng(Baylor College of Medicine), Marni J. Falk(Children's Hospital of Philadelphia), Jennifer Wambach(Mallinckrodt (United States)), Hsiao-Tuan Chao, Carol A. Wise(Texas Scottish Rite Hospital for Children), Elaine Seto(Baylor College of Medicine), Edward M. Behrens(Children's Hospital of Philadelphia), Ronit Marom, Monika Weisz Hubshman, Angela L. Duker(Children's Hospital of Michigan), Ila Oxendine(Texas Scottish Rite Hospital for Children), Lisa Emrick(Baylor College of Medicine), Daryl A. Scott(Baylor College of Medicine), Arjun Tarakad(Baylor College of Medicine), Shinya Yamamoto(Neurological Research Institute), Hongzheng Dai(Baylor College of Medicine), Richard A. Lewis(Wayne State University), Lisa E. Kratz(Kennedy Krieger Institute), Michael F. Wangler(Baylor College of Medicine), Kristhen N Atala(Texas Scottish Rite Hospital for Children), Pengfei Liu, Wen‐Wen Lin(Baylor College of Medicine), Christine M. Eng(Icahn School of Medicine at Mount Sinai), Seema R. Lalani(Baylor College of Medicine), Gary Clark, Patricia A. Ward(Baylor College of Medicine), Alyssa A. Tran, Oguz Kanca(University of California, Los Angeles), William J. Craigen(Baylor College of Medicine), Jennifer E. Posey(Baylor College of Medicine)
Genetics in Medicine
June 3, 2024
Cited by 4


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