ea0049gp45 | Bone & Calcium Homeostasis 2 | ECE2017
Hanna Patrick
, Rochtus Anne
, Jueppner Harald
, Mackay Deborah
, Francou Bruno
, Bouligand Jerome
, Mantel Anne
, Anagnostou Elli
, Gaillard Dominique
, Linglart Agnes
PHP1B -iPPSD3 per the new proposed classification- is a rare disorder characterized in most patients by proximal tubular resistance to PTH resulting in hypocalcemia, hyperphosphatemia and elevated PTH. Loss-of-methylation (LOM) at the Differentially Methylated Region (DMR) at GNAS exon A/B occurs in all PHP1B patients, but methylation changes at other DMRs within GNAS occur in some familial and most sporadic PHP1B cases. All patients with autosomal dominant PHP1B (AD-...