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A de novo mutation of ADAMTS8 in a patient with Wiedemann–Steiner syndrome
BACKGROUND: Wiedemann–Steiner syndrome (WDSTS) is a rare autosomal dominant disorder caused by mutations in the KMT2A gene and is usually characterized by hairy elbows, short stature, developmental delay, intellectual disability and obvious facial dysmorphism. CASE PRESENTATION: Here, we report a 5-...
| Autores principales: | , , , , , , , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
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BioMed Central
2023
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| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10469774/ https://www.ncbi.nlm.nih.gov/pubmed/37649104 http://dx.doi.org/10.1186/s13039-023-00654-0 |