Article
The spectrum of parathyroid gland dysfunction associated with the microdeletion 22q11.
European journal of endocrinology - 1 Jul 2006
Hiéronimus Sylvie, Bec-Roche Magali, Pedeutour Florence, Lambert Jean Claude, Wagner-Malher Kathy, Mas Jean Christophe, Sadoul Jean Louis, Fénichel Patrick
Abstract excerpt
OBJECTIVE: Clinical features associated with microdeletion of chromosome 22q11 (del(22)(q11)) are highly variable. Increased awareness of this condition is needed among specialists such as endocrinologists to reduce diagnostic delay and improve clinical care. The purpose of this study was to describe the phenotype of patients with del(22)(q11), focusing on parathyroid gland dysfunction. DESIGN AND METHODS: Charts...
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