Intragenic GNAS deletion involving exon A/B in pseudohypoparathyroidism type 1A resulting in an apparent loss of exon A/B methylation: Potential for misdiagnosis of pseudohypoparathyroidism type 1B

  1. Fernandez-Rebollo, E.
  2. García-Cuartero, B.
  3. Garin, I.
  4. Largo, C.
  5. Martínez, F.
  6. Garcia-Lacalle, C.
  7. Castaño, L.
  8. Bastepe, M.
  9. De Nanclares, G.P.
Revue:
Journal of Clinical Endocrinology and Metabolism

ISSN: 0021-972X 0021-972X

Année de publication: 2010

Volumen: 95

Número: 2

Pages: 765-771

Type: Article

DOI: 10.1210/JC.2009-1581 GOOGLE SCHOLAR lock_openAccès ouvert editor