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eRAM

encyclopedia of Rare Disease Annotation for Precision Medicine




Disease 22q11.2 deletion syndrome
Comorbidity C0030517|parathyroid dysfunction
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PubMedID- 21606191 Objective: to characterize the endocrine and autoimmune disturbances with emphasis on parathyroid dysfunction in patients with 22q11.2 deletion syndrome (22q11.2 ds).

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