A positive genotype–phenotype correlation in a large cohort of patients with Pseudohypoparathyroidism Type Ia and Pseudo-pseudohypoparathyroidism and 33 newly identified mutations in the GNAS gene

Ítems similars

• Follow-up Findings in a Turkish Girl with Pseudohypoparathyroidism Type Ia Caused by a Novel Heterozygous Mutation in the GNAS Gene
  per: Şahin, Sezgin, et al.
  Publicat: (2017)
• Evidence of hormone resistance in a pseudo-pseudohypoparathyroidism patient with a novel paternal mutation in GNAS
  per: Turan, Serap, et al.
  Publicat: (2014)
• Functional characterization of GNAS mutations found in patients with pseudohypoparathyroidism type Ic defines a new subgroup of pseudohypoparathyroidism affecting selectively Gsα-receptor interaction
  per: Thiele, Susanne, et al.
  Publicat: (2011)
• A Novel Splicing Mutation of the GNAS Gene in a Patient with Pseudohypoparathyroidism Ia
  per: Nakamura, Akie, et al.
  Publicat: (2011)
• European guidance for the molecular diagnosis of pseudohypoparathyroidism not caused by point genetic variants at GNAS: an EQA study
  per: Garin, Intza, et al.
  Publicat: (2015)