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pro vyhledávání: '"Ana Karena Neukirch"'
Autor:
Ana Karena Neukirch, Christian Heckmann, Norbert Weyerbrock, Silke Günther, Cornelia Dotzenrath
Publikováno v:
World Journal of Endocrine Surgery. 3:128-130
A 56-year-old female patient with the phenotype of Albright's hereditary osteodystrophy (AHO) and pseudohypoparathyroidism 1a (PHP) diagnosed in 1987 was shown to have a heterozygote inactivating mutation on the GNAS1 gene. The patient has been treat