Boutry-Kryza, Nadia <br/><br/>
Complex mosaic CDKL5 deletion with two distinct mutant alleles in a 4-year-old girl.  [electronic resource] 

 -  American journal of medical genetics. Part A  Aug 2014 
 - 2025-8 p.  digital 
<br/><br/> Publication Type: Case Reports; Journal Article 
<br/><br/><label>ISSN: </label>1552-4833 
<br/><br/><label>Standard No.: </label>10.1002/ajmg.a.36547  doi 
<br/><br/><label>Subjects--Topical Terms: </label><br/>Alleles<br/>Child, Preschool<br/>Chromosome Breakpoints<br/>Comparative Genomic Hybridization<br/>DNA Mutational Analysis<br/>Exons<br/>Female<br/>Gene Deletion<br/>Gene Duplication<br/>Genetic Association Studies<br/>Humans<br/>Infant<br/>Infant, Newborn<br/>Mosaicism<br/>Mutation<br/>Protein Serine-Threonine Kinases--genetics<br/>Rett Syndrome--diagnosis<br/>Spasms, Infantile--diagnosis<br/>X Chromosome Inactivation