Encyclopedia of Signaling Molecules

Living Edition
| Editors: Sangdun Choi

GNAS Complex Locus

Living reference work entry
DOI: https://doi.org/10.1007/978-1-4614-6438-9_101631-1


Historical Background

In 1942, Fuller Albright and his colleagues described a disease characterized by hypocalcemia and hyperphosphatemia, which appeared similar to hypoparathyroidism. However, injection of a parathyroid hormone (PTH) extract did not lead to increased urinary phosphate excretion or normalize serum calcium in the patients. Based on these findings, resistance to the actions of PTH was postulated, and the term pseudohypoparathyroidism (PHP) was coined (Albright et al. 1942). The patients additionally displayed a constellation of phenotypic features including short stature, obesity with round face, brachydactyly, subcutaneous ossifications, and cognitive impairment (Albright et...


Paternal Allele Differentially Methylated Region Monoallelic Expression GNAS Mutation GNAS Gene 
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© Springer Science+Business Media LLC 2016

Authors and Affiliations

  1. 1.Department of Pediatrics Pediatric Endocrinology and DiabetesMarmara University HospitalUstkaynarca/Pendik-IstanbulTurkey
  2. 2.Department of Medicine, Harvard Medical School and Endocrine UnitMassachusetts General HospitalBostonUSA