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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...

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Detalhes bibliográficos
Publicado no:Am J Med Genet A
Main Authors: Theodore‐Oklota, Christina, Egan, Shayna, Paulich, Maggie, Evans, Christopher J., Hartman, Deborah S., Hoffman, Deborah L., Björnsson, Hans T.
Formato: Artigo
Idioma:Inglês
Publicado em: John Wiley & Sons, Inc. 2020
Assuntos:
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC7383624/
https://ncbi.nlm.nih.gov/pubmed/32246746
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/ajmg.a.61584
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