Voutoufianakis, S <br/><br/>
Coinheritance of mutated SMN1 and MECP2 genes in a child with phenotypic features of spinal muscular atrophy (SMA) type II and Rett syndrome.  [electronic resource] 

 -  European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society  Jul 2007 
 - 235-9 p.  digital 
<br/><br/> Publication Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't 
<br/><br/><label>ISSN: </label>1090-3798 
<br/><br/><label>Standard No.: </label>10.1016/j.ejpn.2006.12.007  doi 
<br/><br/><label>Subjects--Topical Terms: </label><br/>Base Sequence<br/>Child<br/>Child, Preschool<br/>Cyclic AMP Response Element-Binding Protein--genetics<br/>DNA Mutational Analysis<br/>Female<br/>Humans<br/>Methyl-CpG-Binding Protein 2--genetics<br/>Molecular Sequence Data<br/>Mutation, Missense<br/>Nerve Tissue Proteins--genetics<br/>Phenotype<br/>Polymerase Chain Reaction<br/>Polymorphism, Restriction Fragment Length<br/>RNA-Binding Proteins--genetics<br/>Rett Syndrome--complications<br/>SMN Complex Proteins<br/>Spinal Muscular Atrophies of Childhood--complications<br/>Survival of Motor Neuron 1 Protein