Brief Report: Delayed Puberty and Estrogen Resistance in a Woman with Estrogen Receptor a Variant
Brief Report: Delayed Puberty and Estrogen Resistance in a Woman with Estrogen Receptor a Variant
Publisher:
New England Journal of Medicine
Date published:
2013
Record type:
Journal Title:
The New England Journal of Medicine
Source:
The New England Journal of Medicine, Vol. 369, No. 2, July 11, 2013, pp. 164-171
Abstract:
This article describes a young woman with marked estrogen resistance owing to a homozygous loss-of-function mutation in ESR1, which encodes estrogen receptor a. This case shows that disruption of ESR1 causes profound estrogen resistance in women.
Language:
Catagory URL:
CITATION: Quaynor, S.D. [etal]. Brief Report: Delayed Puberty and Estrogen Resistance in a Woman with Estrogen Receptor a Variant . : New England Journal of Medicine , 2013. The New England Journal of Medicine, Vol. 369, No. 2, July 11, 2013, pp. 164-171 - Available at: https://library.au.int/brief-report-delayed-puberty-and-estrogen-resistance-woman-estrogen-receptor-variant-4