content:aicardi_syndrome

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content:aicardi_syndrome [2020/02/23 00:49] – icnacontent:aicardi_syndrome [2020/02/23 00:51] – icna
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 ==== Genetics ==== ==== Genetics ====
   * Nearly all reported cases of Aicardi syndrome are sporadic and in females and believed to result from new gene mutations   * Nearly all reported cases of Aicardi syndrome are sporadic and in females and believed to result from new gene mutations
-  * Aicardi syndrome is classified as an X-linked dominant condition[{{ :content:xlinkdominant.jpeg?300|Credit:U.S National Library of Medicine}}.+  * Aicardi syndrome is classified as an X-linked dominant condition[{{ :content:xlinkdominant.jpeg?300|Credit:U.S National Library of Medicine}}].
   * mutation in gene [[https://www.genecards.org/cgi-bin/carddisp.pl?gene=TEAD1|TEAD1]] was the first genetic mutation reported to be associated with Aicardi syndrome[(:cite:26091538>{{pubmed>long:26091538}})]. TEAD1 mutations has also been shown to be present in males[(:cite:26091538>{{pubmed>long:26091538}})].   * mutation in gene [[https://www.genecards.org/cgi-bin/carddisp.pl?gene=TEAD1|TEAD1]] was the first genetic mutation reported to be associated with Aicardi syndrome[(:cite:26091538>{{pubmed>long:26091538}})]. TEAD1 mutations has also been shown to be present in males[(:cite:26091538>{{pubmed>long:26091538}})].
  
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