Article
Molecular analysis of the GNAS1 gene for the correct diagnosis of Albright hereditary osteodystrophy and pseudohypoparathyroidism.
Pediatric research - 1 May 2003
De Sanctis Luisa, Romagnolo Damiano, Olivero Martina, Buzi Fabio, Maghnie Mohamad, Scirè Giuseppe, Crino Antonio, Baroncelli Giampiero Igli, Salerno Mariacarolina, Di Maio Salvatore, Cappa Marco, Grosso Salvatore, Rigon Franco, Lala Roberto, De Sanctis Carlo, Dianzani Irma
Abstract excerpt
Pseudohypoparathyroidism (PHP) is a heterogeneous disease characterized by PTH resistance and classified as types Ia, Ib, Ic, and II, according to its different pathogenesis and phenotype. PHP-Ia patients show Gsalpha protein deficiency, PTH resistance, and typical Albright hereditary osteodystrophy (AHO). Heterozygous mutations in the GNAS1 gene encoding the Gsalpha protein have been identified both in PHP-Ia...
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