De Novo STX16 Deletions: An Infrequent Cause of Pseudohypoparathyroidism Type Ib that Should Be Excluded in Sporadic Cases


Turan S. , Ignatius J., Moilanen J. S. , Kuismin O., Stewart H., Mann N. P. , ...More

JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM, vol.97, no.12, 2012 (Journal Indexed in SCI) identifier

  • Publication Type: Article / Article
  • Volume: 97 Issue: 12
  • Publication Date: 2012
  • Doi Number: 10.1210/jc.2012-2920
  • Title of Journal : JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM

Abstract

Context: Maternally inherited 3-kb STX16 deletions cause autosomal dominant pseudohypoparathyroidism type Ib (PHP-Ib) characterized by PTH resistance with loss of methylation restricted to the GNAS exon A/B.