Login / Signup

Adams-Oliver Syndrome: Vestigial Tail and Genetics Update.

Victor Z ZhuEmily Hansen-KissJacqueline T HechtPhileemon E Payne
Published in: Archives of plastic surgery (2022)
Adams-Oliver syndrome is a well-recognized autosomal dominant disorder for which mutations in six genes are etiologic, but account for only one-third of the cases. We report a patient with two genetic disorders; Adams-Oliver and Xp22.33 deletion syndromes, as well as a vestigial pseudotail. The presence of a pseudotail has not previously been reported in either of these genetic conditions. Absence of a molecular etiology underlying Adams-Oliver syndrome confirms that there are additional genetic causes to be identified.
Keyphrases
  • genome wide
  • case report
  • copy number
  • dna methylation
  • transcription factor
  • single molecule