A Novel STX16 Deletion in Autosomal Dominant Pseudohypoparathyroidism Type Ib Redefines the Boundaries of a cis-Acting Imprinting Control Element of GNAS

Antzeko izenburuak

• Deletion of the Noncoding GNAS Antisense Transcript Causes Pseudohypoparathyroidism Type Ib and Biparental Defects of GNAS Methylation in cis
  nork: Chillambhi, Smitha, et al.
  Argitaratua: (2010)
• Deletion of the Noncoding GNAS Antisense Transcript Causes Pseudohypoparathyroidism Type Ib and Biparental Defects of GNAS Methylation in cis
  nork: Chillambhi, Smitha, et al.
  Argitaratua: (2010)
• Autosomal dominant pseudohypoparathyroidism type Ib is associated with a heterozygous microdeletion that likely disrupts a putative imprinting control element of GNAS
  nork: Bastepe, Murat, et al.
  Argitaratua: (2003)
• Recessive versus imprinted disorder: consanguinity can impede establishing the diagnosis of autosomal dominant pseudohypoparathyroidism type Ib
  nork: Turan, Serap, et al.
  Argitaratua: (2010)
• De Novo STX16 Deletions: An Infrequent Cause of Pseudohypoparathyroidism Type Ib that Should Be Excluded in Sporadic Cases
  nork: Turan, Serap, et al.
  Argitaratua: (2012)