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Article

Exploring pathway interactions to detect molecular mechanisms of disease: 22q11.2 deletion syndrome.

Orphanet journal of rare diseases - 24 Oct 2023

Shin Woosub, Kutmon Martina, Mina Eleni, van Amelsvoort Therese, Evelo Chris T, Ehrhart Friederike

Abstract excerpt

BACKGROUND: 22q11.2 Deletion Syndrome (22q11DS) is a genetic disorder characterized by the deletion of adjacent genes at a location specified as q11.2 of chromosome 22, resulting in an array of clinical phenotypes including autistic spectrum disorder, schizophrenia, congenital heart defects, and immune deficiency. Many characteristics of the disorder are known, such as the phenotypic variability of the disease...

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PMID: 37872602
DOI: 10.1186/s13023-023-02953-6
PMCID: PMC10594698

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