Article

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

2026-05-04

Abstract excerpt

<title>Abstract</title> <p>Objectives 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 pedi...

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Literature Corpus work: d0a5a7e2-6d10-592e-a60e-b939b9e9fb14
DOI: 10.21203/rs.3.rs-9443851/v1

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