Archives of Plastic Surgery

  • 제49권4호
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  • Pages.517-522
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  • 2022
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  • 2234-6163(pISSN)
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  • 2234-6171(eISSN)
대한성형외과학회 (Korean Society of Plastic and Reconstructive Surgeons)
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Adams-Oliver Syndrome: Vestigial Tail and Genetics Update

  • Zhu, Victor Z. (Division of Plastic Surgery, Department of Surgery, University of Texas Medical Branch) ;
  • Hansen-Kiss, Emily (University of Texas Health Science Center School of Dentistry) ;
  • Hecht, Jacqueline T. (University of Texas Health Science Center School of Dentistry) ;
  • Payne, Phileemon E. (Shriners Hospitals for Children)
  • 발행 : 2022.07.15
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초록

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.

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참고문헌

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