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Identifying the KAT6B Mutation via Diagnostic Exome Sequencing to Diagnose Say-Barber-Biesecker-Young-Simpson Syndrome in Three Generations of a Family
Diagnostic exome sequencing (DES) is a powerful tool to analyze the pathogenic variants leading to development delay (DD) and intellectual disability (ID). Recently, heterozygous de novo mutation of the histone acetyltransferase encoding gene KAT6B has been recognized as causing a syndrome with cong...
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| Publicat a: | Ann Rehabil Med |
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| Autors principals: | , , , , , |
| Format: | Artigo |
| Idioma: | Inglês |
| Publicat: |
Korean Academy of Rehabilitation Medicine
2017
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| Matèries: | |
| Accés en línia: | https://ncbi.nlm.nih.gov/pmc/articles/PMC5532359/ https://ncbi.nlm.nih.gov/pubmed/28758091 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.5535/arm.2017.41.3.505 |
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