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Pseudohypoparathyroidism Type Ib Associated with Novel Duplications in the GNAS Locus
(Public Library Science, 2015-02-24)
Context
Pseudohypoparathyroidism type 1b (PHP-Ib) is characterized by renal resistance to PTH (and, sometimes, a mild resistance to TSH) and absence of any features of Albright's hereditary osteodystrophy. Patients with ...