hrp0082p3-d1-661 | Bone | ESPE2014
, Sabolic Vesna
, Tasic Velibor
, Mitsui Toshikatsu
, Hasegawa Toshikatsu
Background: Idiopathic isolated hypoparathyroidism is rare in children. Most often aetiology is autoimmune or genetic.Objective and hypotheses: To sequence eleven genes (AIRE, CASR, GATA3, GCM2, PCLN1, PTH, TBCE, TRPM6, GNAS, PRKAR1A, PDE4D) associated with hypoparathyroidism in a child with isolated hypoparathyroidism (IHPT) in order to find a specific gene alteration in IHPT.Method: We systematically sequenced the 11 gen...