Aberrant splicing caused by a novel KMT2A variant in Wiedemann–Steiner syndrome
Abstract Introduction Wiedemann–Steiner syndrome (WSS) is a rare autosomal‐dominant disorder caused by KMT2A variants. The aim of this study was to characterize a novel KMT2A variant in a child with WSS and demonstrate integrated diagnostic approaches. Methods A 3‐year‐old female with developmental...
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| Principais autores: | , , |
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| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado: |
Wiley
2024-03-01
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| Series: | Molecular Genetics & Genomic Medicine |
| Assuntos: | |
| Acceso en liña: | https://doi.org/10.1002/mgg3.2415 |
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