Article

Copy number variations in a Chinese series of patients with DiGeorge syndrome-related hypoparathyroidism

2023-04-10

Abstract excerpt

<title>Abstract</title> <p><bold>Purpose: </bold>Large genic copy number variations (CNVs) that are rare in the general population have been identified as pathogenic variations in many human diseases. Microdeletion of chromosome 22 leads to DiGeorge syndrome-1 (DGS-1), however, research on the influence of CNVs on the phenotype of DGS-1 related hypoparathyroidism (HP) is still lacking. To understand the CNV profi...

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Literature Corpus work: 5432fd66-7053-5906-a5e2-1cc857e92313
DOI: 10.21203/rs.3.rs-2681410/v1

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