Newborn screening and prenatal diagnosis for Rett syndrome: implications for therapy

Most girls with Rett syndrome develop normally prior to the appearance of the typical symptoms. A presymptomatic phase is also observed in many inborn errors of metabolism that are included in newborn screening programs. Diagnostic testing for mutations or large genomic rearrangements involving meth...

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Veröffentlicht in:	Journal of child neurology 2005-09, Vol.20 (9), p.779-783
Hauptverfasser:	Amir, Ruthie E, Sutton, V Reid, Van den Veyver, Ignatia B
Format:	Artikel
Sprache:	eng
Schlagworte:	DNA Mutational Analysis Female Genetic Testing Humans Infant, Newborn Pregnancy Prenatal Diagnosis Rett Syndrome - diagnosis Rett Syndrome - genetics Rett Syndrome - therapy Sensitivity and Specificity
Online-Zugang:	Volltext
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