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. , ...Daha Fazla

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

  • Yayın Türü: Makale / Tam Makale
  • Cilt numarası: 71
  • Basım Tarihi: 2015
  • Doi Numarası: 10.1016/j.bone.2014.10.006
  • Dergi Adı: BONE
  • Sayfa Sayıları: ss.53-57

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).