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Hypoglycemia and Dandy-Walker variant in a Kabuki syndrome patient: a case report
BACKGROUND: Kabuki syndrome (KS) is a rare congenital condition with cardinal manifestations of typical facial features, developmental delays, skeletal anomalies, abnormal dermatoglyphic presentations, and mild to moderate intellectual disability. Pathogenic variants in two epigenetic modifier genes...
| Autores principales: | , , , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
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BioMed Central
2020
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| Materias: | |
| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7531129/ https://www.ncbi.nlm.nih.gov/pubmed/33008324 http://dx.doi.org/10.1186/s12881-020-01117-8 |