Reproductive endocrinology: ESR1 mutation causes estrogen resistance and puberty delay in women

Nature Reviews Endocrinology

Volumn 9, Issue 10, 2013, Pages 565-

  Kugelberg, Elisabeth ^a  

^a NONE

Author keywords

[No Author keywords available]

Indexed keywords

AMINO ACID; ESTRADIOL; ESTROGEN; ESTROGEN RECEPTOR ALPHA; ESTRONE;

BREAST DEVELOPMENT; CLINICAL FEATURE; DELAYED PUBERTY; ESR1 GENE; ESTROGEN BLOOD LEVEL; EXON; GENE; GENE MUTATION; HOMOZYGOSITY; HUMAN; IMMUNOASSAY; IN VITRO STUDY; INFERTILITY; LIGAND BINDING; LIQUID CHROMATOGRAPHY; MASS SPECTROMETRY; MISSENSE MUTATION; NOTE; OVARY; PHENOTYPE; PRIORITY JOURNAL; SINGLE NUCLEOTIDE POLYMORPHISM; UTERUS;

ESTRADIOL; ESTROGEN RECEPTOR ALPHA; ESTROGENS; FEMALE; HUMANS; MUTATION, MISSENSE; PUBERTY, DELAYED;

EID: 84884592359     PISSN: 17595029     EISSN: 17595037     Source Type: Journal    
DOI: 10.1038/nrendo.2013.151     Document Type: Note

References (1)

1. Quaynor, S. D. et al. Delayed puberty and estrogen resistance in a woman with estrogen receptor α variant. N. Engl. J. Med. 369, 164-171 (.2013)