The phenotypic spectrum of the Cornelia de Lange‐like “Alazami‐Yuan syndrome”: A case report of the 7th diagnosed individual and review of the literature
Key Clinical Message We present a 17‐year‐old female with a childhood clinical diagnosis of Cornelia de Lange Syndrome (CdLS), however later genetic testing identified compound heterozygous variants in TAF6, consistent with AYS. This case report adds to the phenotypic spectrum observed in AYS, and d...
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| Format: | Article |
| Language: | English |
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Wiley
2025-05-01
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| Series: | Clinical Case Reports |
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| Online Access: | https://doi.org/10.1002/ccr3.9208 |
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| author | Annie Pappas Mary Mooney Katherine Kohnen Joshua W. Owens Wenying Zhang Robert J. Hopkin Amelle Shillington |
| author_facet | Annie Pappas Mary Mooney Katherine Kohnen Joshua W. Owens Wenying Zhang Robert J. Hopkin Amelle Shillington |
| author_sort | Annie Pappas |
| collection | DOAJ |
| description | Key Clinical Message We present a 17‐year‐old female with a childhood clinical diagnosis of Cornelia de Lange Syndrome (CdLS), however later genetic testing identified compound heterozygous variants in TAF6, consistent with AYS. This case report adds to the phenotypic spectrum observed in AYS, and draws connections to transcriptional pathways between CdLS and AYS. |
| format | Article |
| id | doaj-art-1a88a07a86d843958248b64ccf99f1f9 |
| institution | OA Journals |
| issn | 2050-0904 |
| language | English |
| publishDate | 2025-05-01 |
| publisher | Wiley |
| record_format | Article |
| series | Clinical Case Reports |
| spelling | doaj-art-1a88a07a86d843958248b64ccf99f1f92025-08-20T01:56:46ZengWileyClinical Case Reports2050-09042025-05-01135n/an/a10.1002/ccr3.9208The phenotypic spectrum of the Cornelia de Lange‐like “Alazami‐Yuan syndrome”: A case report of the 7th diagnosed individual and review of the literatureAnnie Pappas0Mary Mooney1Katherine Kohnen2Joshua W. Owens3Wenying Zhang4Robert J. Hopkin5Amelle Shillington6Department of Pediatrics University of Cincinnati College of Medicine Cincinnati Ohio USADepartment of Pediatrics University of Cincinnati College of Medicine Cincinnati Ohio USADepartment of Pediatrics University of Cincinnati College of Medicine Cincinnati Ohio USADivision of Human Genetics Cincinnati Children's Hospital Medical Center Cincinnati Ohio USADivision of Human Genetics Cincinnati Children's Hospital Medical Center Cincinnati Ohio USADivision of Human Genetics Cincinnati Children's Hospital Medical Center Cincinnati Ohio USADivision of Human Genetics Cincinnati Children's Hospital Medical Center Cincinnati Ohio USAKey Clinical Message We present a 17‐year‐old female with a childhood clinical diagnosis of Cornelia de Lange Syndrome (CdLS), however later genetic testing identified compound heterozygous variants in TAF6, consistent with AYS. This case report adds to the phenotypic spectrum observed in AYS, and draws connections to transcriptional pathways between CdLS and AYS.https://doi.org/10.1002/ccr3.9208Alazami‐Yuan syndromeCornelia de Lange‐like syndromeTAF6transcriptomopathies |
| spellingShingle | Annie Pappas Mary Mooney Katherine Kohnen Joshua W. Owens Wenying Zhang Robert J. Hopkin Amelle Shillington The phenotypic spectrum of the Cornelia de Lange‐like “Alazami‐Yuan syndrome”: A case report of the 7th diagnosed individual and review of the literature Clinical Case Reports Alazami‐Yuan syndrome Cornelia de Lange‐like syndrome TAF6 transcriptomopathies |
| title | The phenotypic spectrum of the Cornelia de Lange‐like “Alazami‐Yuan syndrome”: A case report of the 7th diagnosed individual and review of the literature |
| title_full | The phenotypic spectrum of the Cornelia de Lange‐like “Alazami‐Yuan syndrome”: A case report of the 7th diagnosed individual and review of the literature |
| title_fullStr | The phenotypic spectrum of the Cornelia de Lange‐like “Alazami‐Yuan syndrome”: A case report of the 7th diagnosed individual and review of the literature |
| title_full_unstemmed | The phenotypic spectrum of the Cornelia de Lange‐like “Alazami‐Yuan syndrome”: A case report of the 7th diagnosed individual and review of the literature |
| title_short | The phenotypic spectrum of the Cornelia de Lange‐like “Alazami‐Yuan syndrome”: A case report of the 7th diagnosed individual and review of the literature |
| title_sort | phenotypic spectrum of the cornelia de lange like alazami yuan syndrome a case report of the 7th diagnosed individual and review of the literature |
| topic | Alazami‐Yuan syndrome Cornelia de Lange‐like syndrome TAF6 transcriptomopathies |
| url | https://doi.org/10.1002/ccr3.9208 |
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