The gene responsible for pseudohypoparathyroidism type Ib is paternally imprinted and maps in four unrelated kindreds to chromosome 20q13.3

Gelijkaardige items

• Paternal Uniparental Isodisomy of the Entire Chromosome 20 as a Molecular Cause of Pseudohypoparathyroidism Type Ib (PHP-Ib)
  door: Bastepe, Murat, et al.
  Gepubliceerd in: (2010)
• Autosomal dominant pseudohypoparathyroidism type Ib is associated with a heterozygous microdeletion that likely disrupts a putative imprinting control element of GNAS
  door: Bastepe, Murat, et al.
  Gepubliceerd in: (2003)
• Recessive versus imprinted disorder: consanguinity can impede establishing the diagnosis of autosomal dominant pseudohypoparathyroidism type Ib
  door: Turan, Serap, et al.
  Gepubliceerd in: (2010)
• Coexistence of two different pseudohypoparathyroidism subtypes (Ia and Ib) in the same kindred with independent Gsα coding mutations and GNAS imprinting defects
  door: Lecumberri, B, et al.
  Gepubliceerd in: (2009)
• A Novel STX16 Deletion in Autosomal Dominant Pseudohypoparathyroidism Type Ib Redefines the Boundaries of a cis-Acting Imprinting Control Element of GNAS
  door: Linglart, Agnès, et al.
  Gepubliceerd in: (2005)