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pro vyhledávání: '"Vanessa Marchin"'
Autor:
Catherine S. Choong, John Beilby, Joan Uzaraga, Karen J. Woodward, Vicki Chabros, Fabiana Ramos Vasques Walters, Dimitar N. Azmanov, Sarah L. Nickerson, Dagmara A. Kennedy, Tanya Grumball, Joanne Peverall, Gillian M. Arscott, Tracey Edwards, Rebecca E. Brereton, Vanessa Marchin, Soruba Sivamoorthy, Sharron Townshend
Publikováno v:
American Journal of Medical Genetics Part A. 185:3136-3145
Silver-Russell syndrome (SRS) is a rare genetic condition primarily characterized by growth restriction and facial dysmorphisms. While hypomethylation of H19/IGF2:IG-DMR (imprinting control region 1 [IC1]) located at 11p15.5 and maternal uniparental