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De Novo KMT2D Heterozygous Frameshift Deletion in a Newborn with a Congenital Heart Anomaly
Kabuki syndrome (KS) is characterized by typical facial features and patients are also affected by multiple congenital anomalies, of which congenital heart anomalies (CHAs) are present in 28.0 to 80.0%. In approximately 75.0% of patients, the genetic causes of KS are caused by mutation in the KMT2D...
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| Publicado no: | Balkan J Med Genet |
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| Main Authors: | , , , |
| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
Sciendo
2020
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| Assuntos: | |
| Acesso em linha: | https://ncbi.nlm.nih.gov/pmc/articles/PMC7474217/ https://ncbi.nlm.nih.gov/pubmed/32953414 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.2478/bjmg-2020-0008 |
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