Mayr, Johannes A <br/><br/>
A 1.1 million base pair X-chromosomal deletion covering the PDHA1 and CDKL5 genes in a female patient with West syndrome and pyruvate oxidation deficiency.  [electronic resource] 

 -  Neuropediatrics  Jun 2012 
 - 130-4 p.  digital 
<br/><br/> Publication Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't 
<br/><br/><label>ISSN: </label>1439-1899 
<br/><br/><label>Standard No.: </label>10.1055/s-0032-1309308  doi 
<br/><br/><label>Subjects--Topical Terms: </label><br/>Child, Preschool<br/>Chromosome Deletion<br/>Chromosomes, Human, X<br/>Female<br/>Humans<br/>Infant<br/>Protein Serine-Threonine Kinases--genetics<br/>Pyruvate Dehydrogenase (Lipoamide)--genetics<br/>Pyruvate Dehydrogenase Complex Deficiency Disease--genetics<br/>Spasms, Infantile--genetics