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Article

The int22h1/int22h2-Mediated Xq28 Duplication Syndrome: An Intersection between Neurodevelopment, Immunology, and Cancer.

Genes - 4 Jun 2021

Ballout Rami A, El-Hattab Ayman W

Abstract excerpt

The int22h1/int22h2-mediated Xq28 duplication syndrome is a rare X-linked intellectual disability syndrome (XLIDS) arising from a duplication of the segment between intron 22 homologous regions 1 and 2, on the q28 subregion of the X chromosome. The main clinical features of the syndrome include intellectual disability, neurobehavioral abnormalities, and dysmorphic facial features. Due to the X-linked nature of...

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Identifiers

PMID: 34199727
DOI: 10.3390/genes12060860
PMCID: PMC8229372

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