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Article

Neurobehavioral features in individuals with Kabuki syndrome.

Molecular genetics & genomic medicine - 1 May 2018

Caciolo Cristina, Alfieri Paolo, Piccini Giorgia, Digilio Maria Cristina, Lepri Francesca Romana, Tartaglia Marco, Menghini Deny, Vicari Stefano

Abstract excerpt

BACKGROUND: Kabuki syndrome (KS) is a disorder characterized by multiple congenital anomalies affecting development and function of multiple systems. Over the years, researchers have attempted to characterize the neurobehavioral phenotype of KS in cohorts of patients enrolled on the basis of clinical assessment. The availability of molecular testing now allows for recruitment of patients with confirmed KS due to...

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Identifiers

PMID: 29536651
DOI: 10.1002/mgg3.348
PMCID: PMC6014453

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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