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Candidate gene analysis in three families with acilia syndrome

✍ Scribed by Marja W. Wessels; Avraham Avital; Mike Failly; Analia Munoz; Heymut Omran; Jean-Louis Blouin; Patrick J. Willems


Publisher
John Wiley and Sons
Year
2008
Tongue
English
Weight
52 KB
Volume
146A
Category
Article
ISSN
1552-4825

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Rett syndrome (RTT) is an X-linked dominant neurodevelopmental disorder that affects females. Exclusion mapping studies using a new family with maternal inheritance of RTT defined Xq28 as the candidate region for the RTT gene. Six candidate genes were selected for mutation analysis based on their es