11β-hydroxylase deficiency causes: Difference between revisions
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{{Congenital adrenal hyperplasia due to 11β-hydroxylase deficiency}} | {{Congenital adrenal hyperplasia due to 11β-hydroxylase deficiency}} | ||
{{CMG}}; {{AE}} {{ | {{CMG}}; {{AE}} {{MJ}} | ||
==Overview== | ==Overview== | ||
Mutations in the CYP11B1 gene cause | Mutations in the [[CYP11B1]] gene cause [[11β-hydroxylase]] deficiency, classic type. The responsible [[mutation]] in non-classic type is unknown. | ||
==Causes== | ==Causes== | ||
Mutations in the [[CYP11B1]] gene cause 11β-hydroxylase deficiency, classic type. The responsible mutation in non-classic type is unknown.<ref name="pmid28476231">{{cite journal |vauthors=Hannah-Shmouni F, Chen W, Merke DP |title=Genetics of Congenital Adrenal Hyperplasia |journal=Endocrinol. Metab. Clin. North Am. |volume=46 |issue=2 |pages=435–458 |year=2017 |pmid=28476231 |doi=10.1016/j.ecl.2017.01.008 |url=}}</ref><ref name="pmid7988480">{{cite journal |vauthors=White PC, Curnow KM, Pascoe L |title=Disorders of steroid 11 beta-hydroxylase isozymes |journal=Endocr. Rev. |volume=15 |issue=4 |pages=421–38 |year=1994 |pmid=7988480 |doi=10.1210/edrv-15-4-421 |url=}}</ref> | |||
==Reference== | ==Reference== | ||
{{Reflist|2}} | {{Reflist|2}} | ||
Latest revision as of 19:36, 18 October 2017
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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]; Associate Editor(s)-in-Chief: Mehrian Jafarizade, M.D [2]
Overview
Mutations in the CYP11B1 gene cause 11β-hydroxylase deficiency, classic type. The responsible mutation in non-classic type is unknown.
Causes
Mutations in the CYP11B1 gene cause 11β-hydroxylase deficiency, classic type. The responsible mutation in non-classic type is unknown.[1][2]
Reference
- ↑ Hannah-Shmouni F, Chen W, Merke DP (2017). "Genetics of Congenital Adrenal Hyperplasia". Endocrinol. Metab. Clin. North Am. 46 (2): 435–458. doi:10.1016/j.ecl.2017.01.008. PMID 28476231.
- ↑ White PC, Curnow KM, Pascoe L (1994). "Disorders of steroid 11 beta-hydroxylase isozymes". Endocr. Rev. 15 (4): 421–38. doi:10.1210/edrv-15-4-421. PMID 7988480.