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Article

A national survey of Rett syndrome: age, clinical characteristics, current abilities, and health.

American journal of medical genetics. Part A - 1 Jul 2015

Cianfaglione Rina, Clarke Angus, Kerr Mike, Hastings Richard P, Oliver Chris, Felce David

Abstract excerpt

As part of a wider study to investigate the behavioral phenotype of a national sample of girls and women with Rett syndrome (RTT) in comparison to a well-chosen contrast group and its relationship to parental well-being, the development, clinical severity, current abilities and health of 91 participants were analyzed in relation to diagnostic, clinical and genetic mutation categories. Early truncating mutations...

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Identifiers

PMID: 25820775
DOI: 10.1002/ajmg.a.37027

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