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[An adolescent with 22q11.2 deletion syndrome and multiple endocrinopathies].

Anales de pediatria (Barcelona, Spain : 2003) - 1 May 2011

Guerrero Fernández J, Labrandero de Lera C, González Casado I, Gracia Bouthelier R

Abstract excerpt

The endocrine abnormalities are common in patients with 22q11.2 deletion, and include hypocalcaemia due to primary hypoparathyroidism, short stature and thyroid dysfunction. We present a patient with delayed diagnosis of del22q11.2 who had multiple endocrine involvement and type 1 diabetes mellitus. A review is also made on the current knowledge of the endocrine manifestations described in patients with 22q11.2...

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Identifiers

PMID: 21388900
DOI: 10.1016/j.anpedi.2011.01.025

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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