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...

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Detalles Bibliográficos
Autores principales: Theodore‐Oklota, Christina, Egan, Shayna, Paulich, Maggie, Evans, Christopher J., Hartman, Deborah S., Hoffman, Deborah L., Björnsson, Hans T.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley & Sons, Inc. 2020
Materias:
Original Articles
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

Internet

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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