JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM, cilt.97, sa.12, 2012 (SCI-Expanded)
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.