- AutorIn
- Stephan B. Sobottka
- Angela Hübner
- Markus Haase
- Wiebke Ahrens
- Edgar Rupprecht
- Hans K. Schackert
- Gabriele Schackert
- Titel
- Albright’s Hereditary Osteodystrophy Associated with Cerebellar Pilocytic Astrocytoma: Coincidence or Genetic Relationship?
- Zitierfähige Url:
- https://nbn-resolving.org/urn:nbn:de:bsz:14-qucosa-134526
- Quellenangabe
- Horm Res 2001;55:196–200, ISSN: 0301-0163
- Erstveröffentlichung
- 2001
- Abstract (DE)
- Dieser Beitrag ist mit Zustimmung des Rechteinhabers aufgrund einer (DFG-geförderten) Allianz- bzw. Nationallizenz frei zugänglich.
- Abstract (EN)
- Albright’s hereditary osteodystrophy (AHO) is a rare inherited disease characterized by skeletal abnormalities, short stature, and, in some cases, resistance to parathyroid hormone, resulting in pseudohypoparathyroidism (PHP). Heterozygous inactivating mutations of the GNAS1 gene are responsible for reduced activity of the alpha subunit of the Gs protein (GSα), a protein that mediates hormone signal transduction across cell membranes. Gsα is also known to have oncogenic potentials, leading to the development of human pituitary tumors and Leydig cell tumors. Here, we report the 1st case, a 3.5-year-old girl, with classic AHO phenotype and PHP type 1A associated with a cerebellar pilocytic astrocytoma. Coincidence or genetic relationships of both diseases are discussed according to molecular findings and current literature.
- Andere Ausgabe
- DOI: 10.1159/000049995
- Volltext des Artikels, der zuerst in der Zeitschrift "Hormone Research" des Karger-Verlages erschienen ist.
Link: http://dx.doi.org/10.1159/000049995 - Freie Schlagwörter (DE)
- Albright hereditäre Osteodystrophie, zerebrales Gliom, Pseudohypoparathyreoidismus,Mutationsanalyse
- Freie Schlagwörter (EN)
- Albright’s hereditary osteodystrophy, Pseudohypoparathyroidism, Cerebral glioma, Gsa protein, GNAS1 gene, Mutation analysis
- Klassifikation (DDC)
- 610
- Klassifikation (RVK)
- XA 10000
- Verlag
- Karger, Basel
- URN Qucosa
- urn:nbn:de:bsz:14-qucosa-134526
- Veröffentlichungsdatum Qucosa
- 20.02.2014
- Dokumenttyp
- Artikel
- Sprache des Dokumentes
- Englisch
- Lizenz / Rechtehinweis