Ontology highlight
ABSTRACT:
SUBMITTER: Elli FM
PROVIDER: S-EPMC6322333 | biostudies-literature | 2019 Jan
REPOSITORIES: biostudies-literature
Clinical epigenetics 20190107 1
<h4>Background</h4>The term pseudohypoparathyroidism (PHP) describes disorders derived from resistance to the parathyroid hormone. Albright hereditary osteodystrophy (AHO) is a disorder with several physical features that can occur alone or in association with PHP. The subtype 1B, classically associated with resistance to PTH and TSH, derives from the epigenetic dysregulation of the GNAS locus. Patients showing features of AHO were described, but no explanation for such phenotypic heterogeneity ...[more]