Article
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.
The Journal of clinical endocrinology and metabolism - 1 Feb 2010
Fernandez-Rebollo Eduardo, García-Cuartero Beatriz, Garin Intza, Largo Cristina, Martínez Francisco, Garcia-Lacalle Concepcion, Castaño Luis, Bastepe Murat, Pérez de Nanclares Guiomar
Abstract excerpt
CONTEXT: Several endocrine diseases that share resistance to PTH are grouped under the term pseudohypoparathyroidism (PHP). Patients with PHP type Ia show additional hormone resistance, defective erythrocyte G(s)alpha activity, and dysmorphic features termed Albright's hereditary osteodystrophy (AHO). Patients with PHP-Ib show less diverse hormone resistance and normal G(s)alpha activity; AHO features are...
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