TY  - GEN
AU  - Bertelloni,Silvano
AU  - Dati,Eleonora
AU  - Baldinotti,Fulvia
AU  - Toschi,Benedetta
AU  - Marrocco,Giacinto
AU  - Sessa,Maria R
AU  - Michelucci,Angela
AU  - Simi,Paolo
AU  - Baroncelli,Giampiero I
TI  - NR5A1 gene mutations: clinical, endocrine and genetic features in two girls with 46,XY disorder of sex development
SN  - 1663-2826
PY  - 2015///0113
KW  - Adolescent
KW  - Androgens
KW  - metabolism
KW  - Codon
KW  - genetics
KW  - Cohort Studies
KW  - Disorder of Sex Development, 46,XY
KW  - Endocrine System
KW  - Exons
KW  - Female
KW  - Heterozygote
KW  - Humans
KW  - Hydrocortisone
KW  - Infant
KW  - Mutation
KW  - Sequence Analysis, DNA
KW  - Steroidogenic Factor 1
N1  - Publication Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't
UR  - https://doi.org/10.1159/000354990
ER  -