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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...
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| Vydáno v: | Colomb Med (Cali) |
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| Hlavní autoři: | , |
| Médium: | Artigo |
| Jazyk: | Inglês |
| Vydáno: |
Universidad del Valle
2019
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| Témata: | |
| On-line přístup: | https://ncbi.nlm.nih.gov/pmc/articles/PMC6536042/ https://ncbi.nlm.nih.gov/pubmed/31168168 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.25100/cm.v50i1.3555 |
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