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Wiedemann-Steiner syndrome with a novel pathogenic variant in KMT2A: a case report
CASE DESCRIPTION: We report the case of a one-year-old girl who was diagnosed with Wiedemann-Steiner Syndrome based on the identification of a novel de novo frameshift mutation in the KMT2A gene by whole exome sequencing and supported by her clinical features. CLINICAL FINDINGS: KMT2A mutations caus...
| Autores principales: | , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
Universidad del Valle
2019
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| Materias: | |
| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6536042/ https://www.ncbi.nlm.nih.gov/pubmed/31168168 http://dx.doi.org/10.25100/cm.v50i1.3555 |