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Expansion of Carraro syndrome or a new disorder?

✍ Scribed by Jerzy Sulko; Krzysztof Miklaszewski; Adam Podosek; Kazimierz Kozlowski


Book ID
106121913
Publisher
Springer
Year
2009
Tongue
English
Weight
150 KB
Volume
169
Category
Article
ISSN
0340-6997

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✍ Senthil K. Sundaram; Ahm M. Huq; Zhen Sun; Wu Yu; Lindsey Bennett; Benjamin J. W πŸ“‚ Article πŸ“… 2011 πŸ› John Wiley and Sons 🌐 English βš– 101 KB

## Abstract Ten members of a 3‐generation pedigree with 7 showing Tourette syndrome/chronic tic phenotype (TS‐CTD) were evaluated with whole exome sequencing. We identified 3 novel, nonsynonymous single nucleotide variants in the __MRPL3, DNAJC13__, and __OFCC1__ genes that segregated with chronic