Article

Case Report: Pre- and post-natal evolution of Kabuki Syndrome due to a novel genetic mutation

2024-04-26

Abstract excerpt

Kabuki syndrome is a rare condition characterized by intellectual disability, poly-malformative syndrome, and distinctive facial dysmorphia. It also exhibits clinical and biological heterogeneity, with rare and diverse symptoms. Genetic analysis plays a significant role in both positive diagnosis and prognosis. Recently, whole exome sequencing has identified several genes responsible for the disease, notably KMT2D...

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Literature Corpus work: 1c90c336-8ab6-5cff-8170-bb306dc1862b
DOI: 10.12688/f1000research.144099.1

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