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. , ...Daha Fazla

JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM, cilt.97, sa.12, 2012 (SCI İndekslerine Giren Dergi) identifier

  • Cilt numarası: 97 Konu: 12
  • Basım Tarihi: 2012
  • Doi Numarası: 10.1210/jc.2012-2920
  • Dergi Adı: JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM

Özet

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.