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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| Main Authors: | , , , , , , |
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| Format: | Article |
| Language: | English |
| Published: |
Wiley
2025-05-01
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| Series: | Clinical Case Reports |
| Subjects: | |
| Online Access: | https://doi.org/10.1002/ccr3.9208 |
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