Methyl-CpG-binding protein 2 (MECP2) mutation type is associated with disease severity in Rett syndrome

Autor: Cuddapah, Vishnu Anand, Pillai, Rajesh B, Shekar, Kiran V, Lane, Jane B, Motil, Kathleen J, Skinner, Steven A, Tarquinio, Daniel Charles, Glaze, Daniel G, McGwin, Gerald, Kaufmann, Walter E, Percy, Alan K, Neul, Jeffrey L, Olsen, Michelle L

Publikováno v: Journal of medical genetics, vol 51, iss 3
Cuddapah, VA; Pillai, RB; Shekar, KV; Lane, JB; Motil, KJ; Skinner, SA; et al.(2014). Methyl-CpG-binding protein 2 (MECP2) mutation type is associated with disease severity in rett syndrome. Journal of Medical Genetics, 51(3), 152-158. doi: 10.1136/jmedgenet-2013-102113. UC San Diego: Retrieved from: http://www.escholarship.org/uc/item/6r37r7n6

Background: Rett syndrome (RTT), a neurodevelopmental disorder that primarily affects girls, is characterised by a period of apparently normal development until 6-18 months of age when motor and communication abilities regress. More than 95% of indiv

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https://escholarship.org/uc/item/6r37r7n6

Methyl-CpG-binding protein 2 (MECP2) mutation type is associated with disease severity in Rett syndrome.

Autor: Cuddapah VA; Department of Cell, Developmental and Integrative Biology, University of Alabama at Birmingham, Birmingham, Alabama, USA., Pillai RB, Shekar KV, Lane JB, Motil KJ, Skinner SA, Tarquinio DC, Glaze DG, McGwin G, Kaufmann WE, Percy AK, Neul JL, Olsen ML

Publikováno v: Journal of medical genetics [J Med Genet] 2014 Mar; Vol. 51 (3), pp. 152-8. Date of Electronic Publication: 2014 Jan 07.