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pro vyhledávání: '"Jeffrey Loeb"'
Publikováno v:
Tuesday, April 25.
Autor:
Anne M. Comi, Mustafa Sahin, Adrienne Hammill, Emma H. Kaplan, Csaba Juhász, Paula North, Karen L. Ball, Alex V. Levin, Bernard Cohen, Jill Morris, Warren Lo, E. Steve Roach, Nicolas Abreu, Maria Acosta, Audina Berrocal, Joyce Bischoff, James Brodie, Craig Burkhart, Gosia Dymerska, David Eckstein, Mabel Enriquez-Algeciras, Joshua Ewen, Brian Fisher, Sharon Freedman, Emily Germain-Lee, Roy Geronemus, Michael Gold, Rashmi Gopal-Srivastava, Adelaide Hebert, Lan Huang, Henry Jampel, Matsanga Kaseka, Yasmine Kirkorian, Eric Kossoff, Doris Lin, Jeffrey Loeb, Kalyani Marathe, Doug Marchuk, Alice Mead, Scott Mellis, Timothy Murray, Thuy Phung, Anna Pinto, Kate Puttgen, Nancy Ratner, Jennifer Reeve, Steve Roach, Charles Swindell, Hung Tseng, Miriya Tune, Sarah Wetzel-Strong, Monica White, Vicky Whittemore
Publikováno v:
Pediatric Neurology. 58:12-24
Sturge-Weber syndrome (SWS) is a vascular neurocutaneous disorder that results from a somatic mosaic mutation in GNAQ, which is also responsible for isolated port-wine birthmarks. Infants with SWS are born with a cutaneous capillary malformation (por