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Article

The Face and Features of RNU4-2: A New, Common, Recognizable, Yet Hidden Neurodevelopmental Disorder.

Pediatric neurology - 1 Dec 2024

Barbour Kristen, Bainbridge Matthew N, Wigby Kristen, Besterman Aaron D, Chuang Nathaniel A, Tobin Laura E, Del Campo Miguel, Lenberg Jerica, Bird Lynne M, Friedman Jennifer

Abstract excerpt

BACKGROUND: RNU4-2 is a newly identified, noncoding gene responsible for a significant proportion of individuals with neurodevelopmental disorders (NDDs). Diagnosis is hampered by the inability of commonly employed clinical testing methods, including exome sequencing and currently formulated multigene panels, to detect variants in the noncoding region. The relatively high prevalence of this condition, predicted...

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PMID: 39423747
DOI: 10.1016/j.pediatrneurol.2024.09.015

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