Allou, L <br/><br/>
Rett-like phenotypes: expanding the genetic heterogeneity to the KCNA2 gene and first familial case of CDKL5-related disease.  [electronic resource] 

 -  Clinical genetics  03 2017 
 - 431-440 p.  digital 
<br/><br/> Publication Type: Journal Article 
<br/><br/><label>ISSN: </label>1399-0004 
<br/><br/><label>Standard No.: </label>10.1111/cge.12784  doi 
<br/><br/><label>Subjects--Topical Terms: </label><br/>Adolescent<br/>Child, Preschool<br/>Codon, Nonsense<br/>Exome--genetics<br/>Female<br/>Genetic Heterogeneity<br/>Guanine Nucleotide Exchange Factors--genetics<br/>High-Throughput Nucleotide Sequencing<br/>Humans<br/>Infant<br/>Kv1.2 Potassium Channel--genetics<br/>Male<br/>Mutation<br/>Phenotype<br/>Protein Serine-Threonine Kinases--genetics<br/>Rett Syndrome--genetics