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A Novel Intronic KMT2D Variant as a Cause of Kabuki Syndrome: A Case Report
Kabuki syndrome (KS) is an autosomal dominant genetic disorder in which most cases are caused by de novo mutations. KS type 1 is caused by mutations in KMT2D (OMIM: #147920) and is more common. KS type 2 is caused by mutations in KDM6A (OMIM: #300867). Both genes encode proteins that modify histones...
Autores principales: | Aristizábal, Erica, Diaz-Ordóñez, Lorena, Candelo, Estephania, Pachajoa, Harry |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Dove
2021
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8502069/ https://www.ncbi.nlm.nih.gov/pubmed/34675602 http://dx.doi.org/10.2147/TACG.S317723 |
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