Evidence of hormone resistance in a pseudo-pseudohypoparathyroidism patient with a novel paternal mutation in GNAS


Turan S., Thiele S., Tafaj O., Brix B., Atay Z., Abali S. , et al.

BONE, cilt.71, ss.53-57, 2015 (SCI İndekslerine Giren Dergi)

Özet

Context: Loss-of-function GNAS mutations lead to hormone resistance and Albright's hereditary osteodystrophy (AHO) when maternally inherited, i.e. pseudohypoparathyroidism-Ia (PHPIa), but cause AHO alone when located on the paternal allele, i.e. pseudoPHP (PPHP).