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 |
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Format: | Artikel |
Sprache: | kor |
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Zusammenfassung: | 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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ISSN: | 2234-6163 2234-6171 |