Adams-Oliver Syndrome: Vestigial Tail and Genetics Update

Adams-Oliver Syndrome: Vestigial Tail and Genetics Update

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 pres...

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Veröffentlicht in:Archives of plastic surgery 2022, Vol.49 (4), p.517-522
Hauptverfasser: Zhu, Victor Z, Hansen-Kiss, Emily, Hecht, Jacqueline T, Payne, Phileemon E
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creator Zhu, Victor Z
Hansen-Kiss, Emily
Hecht, Jacqueline T
Payne, Phileemon E
description 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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title Adams-Oliver Syndrome: Vestigial Tail and Genetics Update
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