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
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 <i>TAF6</i>, consistent with AYS. This case report adds to the phenotypic spectrum observed in AYS, and draws connections to transcriptional pathways between CdLS and AYS.
Authors
- Robert J. Hopkin (ORCID: https://orcid.org/0000-0003-0770-5516)
- Amelle Shillington (ORCID: https://orcid.org/0000-0002-7447-8117)
- Katherine Kohnen
- Wenying Zhang (ORCID: https://orcid.org/0000-0002-4116-0479)
- Mary Mooney
- Joshua W. Owens
- Annie Pappas
Institutions
- Cincinnati Children's Hospital Medical Center (US)
- University of Cincinnati Medical Center (US)
Publication Details
- Journal
- Clinical Case Reports
- Published
- 2025-05-01
- DOI
- https://doi.org/10.1002/ccr3.9208
- Primary Topic
- Genomics and Chromatin Dynamics
- Type
- article
- Field-Weighted Citation Impact
- 0.00