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Endocrine Manifestations of Chromosome 22q11.2 Microdeletion Syndrome

1 Jan 2005

Abstract excerpt

BACKGROUND: Endocrine abnormalities, including hypocalcemia, thyroid dysfunction, and short stature, are associated with chromosome 22q11.2 microdeletion syndrome. This study was undertaken to examine the frequencies and clinical features of endocrine abnormalities in patients with 22q11.2 microdeletion syndrome. METHODS: We analyzed 61 patients with 22q11.2 microdeletion syndrome diagnosed based on the...

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PMID: 15995343
DOI: 10.1159/000086745

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