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Facial Dysmorphisms, Macrodontia, Focal Epilepsy, and Thinning of the Corpus Callosum: A Rare Mild Form of Kabuki Syndrome

Kabuki syndrome (KS) is a rare genetic condition with multiple congenital abnormalities and developmental delay. The cardinal manifestations of KS include characteristic facial features, intellectual disability, skeletal defects, dermatoglyphic abnormalities, and postnatal growth deficiencies. Cardi...

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Detalhes bibliográficos
Publicado no:J Pediatr Genet
Main Authors: Bruni, Valentina, Scozzafava, Cristina, Gnazzo, Maria, Parisi, Francesca, Sestito, Simona, Pensabene, Licia, Novelli, Antonio, Concolino, Daniela
Formato: Artigo
Idioma:Inglês
Publicado em: Georg Thieme Verlag KG 2021
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC7853907/
https://ncbi.nlm.nih.gov/pubmed/33552639
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1055/s-0040-1701645
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