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KAT6B-related disorder in a patient with a novel frameshift variant (c.3925dup)
Heterozygous pathogenic variants in the KAT6B gene, which encodes lysine acetyltransferase 6B, have been identified in patients with congenital rare disorders, including genitopatellar syndrome and Say-Barber-Biesecker-Young-Simpson syndrome. Herein, we report another Japanese patient with a KAT6B-r...
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| Publicado no: | Hum Genome Var |
|---|---|
| Main Authors: | , , , , , , |
| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
Nature Publishing Group UK
2019
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| Assuntos: | |
| Acesso em linha: | https://ncbi.nlm.nih.gov/pmc/articles/PMC6911078/ https://ncbi.nlm.nih.gov/pubmed/31871732 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/s41439-019-0085-3 |
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