TY  - GEN
AU  - Philibert,Pascal
AU  - Leprieur,Elodie
AU  - Zenaty,Delphine
AU  - Thibaud,Elisabeth
AU  - Polak,Michel
AU  - Frances,Anne-Marie
AU  - Lespinasse,James
AU  - Raingeard,Isabelle
AU  - Servant,Nadège
AU  - Audran,Françoise
AU  - Paris,Françoise
AU  - Sultan,Charles
TI  - Steroidogenic factor-1 (SF-1) gene mutation as a frequent cause of primary amenorrhea in 46,XY female adolescents with low testosterone concentration
SN  - 1477-7827
PY  - 2010///0506
KW  - Adolescent
KW  - Amenorrhea
KW  - blood
KW  - Cohort Studies
KW  - DNA Mutational Analysis
KW  - Female
KW  - Follicle Stimulating Hormone
KW  - Gonadal Dysgenesis, 46,XY
KW  - Humans
KW  - Luteinizing Hormone
KW  - Models, Biological
KW  - Mutation, Missense
KW  - physiology
KW  - Osmolar Concentration
KW  - Sex-Determining Region Y Protein
KW  - genetics
KW  - Steroidogenic Factor 1
KW  - Testosterone
N1  - Publication Type: Journal Article
UR  - https://doi.org/10.1186/1477-7827-8-28
ER  -