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Barth syndrome is associated with a cognitive phenotype.
|Title||Barth syndrome is associated with a cognitive phenotype.|
|Publication Type||Journal Article|
|Year of Publication||2007|
|Authors||Mazzocco MMM, Henry AE, Kelly RI|
|Journal||Journal of developmental and behavioral pediatrics : JDBP|
|Date Published||2007 Feb|
Barth syndrome is a rare, X-linked recessive disorder that affects only boys. The cardinal characteristics include growth retardation, cardioskeletal myopathy, chronic or cyclic neutropenia, and 3-methylglutaconic aciduria. A preliminary study of five young boys with Barth syndrome suggested a distinct cognitive phenotype.
|Alternate Journal||J Dev Behav Pediatr|