Mosaicism for GNAS methylation defects associated with pseudohypoparathyroidism type 1B arose in ear...
Mosaicism for GNAS methylation defects associated with pseudohypoparathyroidism type 1B arose in early post-zygotic phases
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Publisher
Germany: BioMed Central Ltd
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Language
English
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Publisher
Germany: BioMed Central Ltd
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Contents
Pseudohypoparathyroidism type 1B (PHP1B; MIM#603233) is a rare imprinting disorder (ID), associated with the GNAS locus, characterized by parathyroid hormone (PTH) resistance in the absence of other endocrine or physical abnormalities. Sporadic PHP1B cases, with no known underlying primary genetic lesions, could represent true stochastic errors in...
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Full title
Mosaicism for GNAS methylation defects associated with pseudohypoparathyroidism type 1B arose in early post-zygotic phases
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TN_cdi_doaj_primary_oai_doaj_org_article_713d51142b784100a51ad6e92cc60046
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_doaj_primary_oai_doaj_org_article_713d51142b784100a51ad6e92cc60046
Other Identifiers
ISSN
1868-7075
E-ISSN
1868-7083
DOI
10.1186/s13148-018-0449-4
