TY  - GEN
AU  - Camats,N
AU  - Pandey,A V
AU  - Fernández-Cancio,M
AU  - Andaluz,P
AU  - Janner,M
AU  - Torán,N
AU  - Moreno,F
AU  - Bereket,A
AU  - Akcay,T
AU  - García-García,E
AU  - Muñoz,M T
AU  - Gracia,R
AU  - Nistal,M
AU  - Castaño,L
AU  - Mullis,P E
AU  - Carrascosa,A
AU  - Audí,L
AU  - Flück,C E
TI  - Ten novel mutations in the NR5A1 gene cause disordered sex development in 46,XY and ovarian insufficiency in 46,XX individuals
SN  - 1945-7197
PY  - 2012///0926
KW  - 46, XX Disorders of Sex Development
KW  - complications
KW  - Adolescent
KW  - Base Sequence
KW  - Child
KW  - Child, Preschool
KW  - DNA Mutational Analysis
KW  - Disorder of Sex Development, 46,XY
KW  - genetics
KW  - Female
KW  - Genetic Predisposition to Disease
KW  - Humans
KW  - Male
KW  - Molecular Sequence Data
KW  - Phenotype
KW  - Point Mutation
KW  - physiology
KW  - Primary Ovarian Insufficiency
KW  - Steroidogenic Factor 1
KW  - Young Adult
N1  - Publication Type: Journal Article; Multicenter Study; Research Support, Non-U.S. Gov't
UR  - https://doi.org/10.1210/jc.2011-3169
ER  -