Article

The Clinical phenotypes and Follow-up of 51 Chinese patients with 22q11.2 Deletion Syndrome

2026-02-11

Abstract excerpt

<h4>Objectives: </h4> 22q11.2 Deletion Syndrome (22q11.2 DS) is an immunodeficiency disorder characterized by a abroad spectrum of clinical phenotypes, including facial dysmorphism, congenital heart and palate malformations , immune deficiencies, endocrine abnormalities, hypocalcemia as well as neurodevelopmental disorders. We aim to describe the clinical phenotypes and follow-up of a Chinese pediatric cohort with...

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Literature Corpus work: 24586886-c58a-5dab-9bf2-f8ad64f19b52
DOI: 10.22541/au.177079697.79775816/v1

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