content:aicardi_syndrome

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content:aicardi_syndrome [2020/02/23 00:49]
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content:aicardi_syndrome [2020/02/23 00:51] (current)
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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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