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Caregiver‐reported clinical characteristics and the burden associated with Kabuki syndrome
Kabuki syndrome is a genetic disorder that can affect multiple body systems and manifest as congenital abnormalities and both developmental and socio‐emotional delays. The condition is largely unknown by most primary care physicians and has no available treatment other than symptomatic management. T...
Autores principales: | Theodore‐Oklota, Christina, Egan, Shayna, Paulich, Maggie, Evans, Christopher J., Hartman, Deborah S., Hoffman, Deborah L., Björnsson, Hans T. |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
John Wiley & Sons, Inc.
2020
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7383624/ https://www.ncbi.nlm.nih.gov/pubmed/32246746 http://dx.doi.org/10.1002/ajmg.a.61584 |
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