Paternal Uniparental Isodisomy of Chromosome 20q--and the Resulting Changes in GNAS1 Methylation--as a Plausible Cause of Pseudohypoparathyroidism.

Authors :: Bastepe, Murat
Lane, Andrew H.
Juppner, Harald
Source :: American Journal of Human Genetics. May2001, Vol. 68 Issue 5, p1283. 7p. 2 Diagrams, 1 Graph.
Publication Year :: 2001
Abstract: Presents a study which reported the case of a patient with parathyroid hormone-resistant hypocalcemia and hyperphosphatemia but without evidence for Albright hereditary osteodystrophy. Subject and methods; Results; Discussion.

Subjects :: *HYPOCALCEMIA
*HYPERPARATHYROIDISM
*PSEUDO-pseudohypoparathyroidism
*GENETICS

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