Molecular Diagnosis and Clinical Characterization of Pseudohypoparathyroidism Type-Ib in a Patient With Mild Albright’s Hereditary Osteodystrophy-Like Features, Epileptic Seizures, and Defective Renal Handling of Uric Acid
Author:
Publisher
Elsevier BV
Subject
General Medicine
Reference28 articles.
1. Autosomal dominant pseudohypoparathyroidism type Ib is associated with a heterozygous microdeletion that likely disrupts a putative imprinting control element of GNAS;Bastepe;J Clin Invest,2003
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3. The stimulatory G protein alpha-subunit Gs alpha is imprinted in human thyroid glands: implications for thyroid function in pseudohypoparathyroidism types 1A and 1B;Liu;J Clin Endocrinol Metab,2003
4. Paternal uniparental isodisomy of chromosome 20q—and the resulting changes in GNAS1 methylation—as a plausible cause of pseudohypoparathyroidism;Bastepe;Am J Hum Genet,2001
5. Positional dissociation between the genetic mutation responsible for pseudohypoparathyroidism type Ib and the associated methylation defect at exon A/B: evidence for a long-range regulatory element within the imprinted GNAS1 locus;Bastepe;Hum Mol Genet,2001
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