Pseudohypoparathyroidism causes: Difference between revisions
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==Causes== | ==Causes== | ||
Pseudohypoparathyroidism is caused by mutations involving primarily the [[GNAS1|GNAS]] gene that results in end organ resistance to [[parathyroid hormone]].For a complete review of genes involved in pseudohypoparathyroidism and associated parathyroid hormone resistance [[Pseudohypoparathyroidism pathophysiology#Genetics|click here]].<ref name="pmid25219572">{{cite journal |vauthors=Lemos MC, Thakker RV |title=GNAS mutations in Pseudohypoparathyroidism type 1a and related disorders |journal=Hum. Mutat. |volume=36 |issue=1 |pages=11–9 |year=2015 |pmid=25219572 |pmc=4309471 |doi=10.1002/humu.22696 |url=}}</ref> | * Pseudohypoparathyroidism is caused by mutations involving primarily the [[GNAS1|GNAS]] gene that results in end organ resistance to [[parathyroid hormone]]. | ||
* For a complete review of genes involved in pseudohypoparathyroidism and associated parathyroid hormone resistance [[Pseudohypoparathyroidism pathophysiology#Genetics|click here]].<ref name="pmid25219572">{{cite journal |vauthors=Lemos MC, Thakker RV |title=GNAS mutations in Pseudohypoparathyroidism type 1a and related disorders |journal=Hum. Mutat. |volume=36 |issue=1 |pages=11–9 |year=2015 |pmid=25219572 |pmc=4309471 |doi=10.1002/humu.22696 |url=}}</ref> | |||
==References== | ==References== | ||
{{Reflist|2}} | {{Reflist|2}} | ||
[[Category:Disease]] | [[Category:Disease]] | ||
Revision as of 13:41, 2 October 2017
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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]; Associate Editor(s)-in-Chief: Mazia Fatima, MBBS [2]
Overview
Pseudohypoparathyroidism is caused by mutations involving primarily the GNAS gene that results in end organ resistance to parathyroid hormone
Causes
- Pseudohypoparathyroidism is caused by mutations involving primarily the GNAS gene that results in end organ resistance to parathyroid hormone.
- For a complete review of genes involved in pseudohypoparathyroidism and associated parathyroid hormone resistance click here.[1]
References
- ↑ Lemos MC, Thakker RV (2015). "GNAS mutations in Pseudohypoparathyroidism type 1a and related disorders". Hum. Mutat. 36 (1): 11–9. doi:10.1002/humu.22696. PMC 4309471. PMID 25219572.