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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 |
| Volume | 28 |
| Issue | 1 |
| Pagination | 22-30 |
| Date Published | 2007 Feb |
| Abstract | 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. |
| DOI | 10.1007/s11832-007-0006-8 |
| Alternate Journal | J Dev Behav Pediatr |
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