A Novel Familial PHP1B Variant With Incomplete Loss of Methylation at GNAS-A/B and Enhanced Methylat...
A Novel Familial PHP1B Variant With Incomplete Loss of Methylation at GNAS-A/B and Enhanced Methylation at GNAS-AS2
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Publisher
US: Oxford University Press
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Language
English
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Publisher
US: Oxford University Press
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Abstract
Context
Pseudohypoparathyroidism type 1B (PHP1B), also referred to as inactivating PTH/PTHrP signaling disorder (iPPSD), is characterized by proximal renal tubular resistance to parathyroid hormone (PTH) leading to hypocalcemia, hyperphosphatemia, and elevated PTH values. Autosomal dominant PHP1B (AD-PHP1B) with loss of methylation a...
Alternative Titles
Full title
A Novel Familial PHP1B Variant With Incomplete Loss of Methylation at GNAS-A/B and Enhanced Methylation at GNAS-AS2
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Author / Creator
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TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_8372637
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_8372637
Other Identifiers
ISSN
0021-972X
E-ISSN
1945-7197
DOI
10.1210/clinem/dgab136
