Recessive versus imprinted disorder: consanguinity can impede establishing the diagnosis of autosomal dominant pseudohypoparathyroidism type Ib

Lignende værker

• Loss of XLαs (extra-large αs) imprinting results in early postnatal hypoglycemia and lethality in a mouse model of pseudohypoparathyroidism Ib
  af: Fernández-Rebollo, Eduardo, et al.
  Udgivet: (2012)
• Deletion of the Noncoding GNAS Antisense Transcript Causes Pseudohypoparathyroidism Type Ib and Biparental Defects of GNAS Methylation in cis
  af: Chillambhi, Smitha, et al.
  Udgivet: (2010)
• Deletion of the Noncoding GNAS Antisense Transcript Causes Pseudohypoparathyroidism Type Ib and Biparental Defects of GNAS Methylation in cis
  af: Chillambhi, Smitha, et al.
  Udgivet: (2010)
• A Novel STX16 Deletion in Autosomal Dominant Pseudohypoparathyroidism Type Ib Redefines the Boundaries of a cis-Acting Imprinting Control Element of GNAS
  af: Linglart, Agnès, et al.
  Udgivet: (2005)
• Identification of a Novel Dentin Matrix Protein-1 (DMP-1) Mutation and Dental Anomalies in a Kindred with Autosomal Recessive Hypophosphatemia
  af: Turan, Serap, et al.
  Udgivet: (2009)