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ACTB Loss-of-Function Mutations Result in a Pleiotropic Developmental Disorder.

Pubmed ID: 
29220674
Year: 
2017
Month: 
Dec
Volume: 
101
Issue: 
6
Citation: 
Cuvertino S, Stuart HM, Chandler KE, Roberts NA, Armstrong R, Bernardini L, Bhaskar S, Callewaert B, Clayton-Smith J, Davalillo CH, Deshpande C, Devriendt K, Digilio MC, Dixit A, Edwards M, Friedman JM, Gonzalez-Meneses A, Joss S, Kerr B, Lampe AK, Langlois S, Lennon R, Loget P, Ma DYT, McGowan R, Des Medt M, O'Sullivan J, Odent S, Parker MJ, Pebrel-Richard C, Petit F, Stark Z, Stockler-Ipsiroglu S, Tinschert S, Vasudevan P, Villa O, White SM, Zahir FR, DDD Study, Woolf AS, Banka S. ACTB Loss-of-Function Mutations Result in a Pleiotropic Developmental Disorder. American Journal of Human Genetics 101 (6) : 1021 - 1033(2017) PubMed