PMID- 10369247
OWN - NLM
STAT- MEDLINE
DCOM- 19990629
LR  - 20101118
IS  - 1061-4036 (Print)
IS  - 1061-4036 (Linking)
VI  - 22
IP  - 2
DP  - 1999 Jun
TI  - A mutation in the gene encoding steroidogenic factor-1 causes XY sex reversal and
      adrenal failure in humans.
PG  - 125-6
FAU - Achermann, J C
AU  - Achermann JC
FAU - Ito, M
AU  - Ito M
FAU - Ito, M
AU  - Ito M
FAU - Hindmarsh, P C
AU  - Hindmarsh PC
FAU - Jameson, J L
AU  - Jameson JL
LA  - eng
GR  - P01 HD21921/HD/NICHD NIH HHS/United States
GR  - U54-HD-29164/HD/NICHD NIH HHS/United States
PT  - Letter
PT  - Research Support, Non-U.S. Gov't
PT  - Research Support, U.S. Gov't, P.H.S.
PL  - United States
TA  - Nat Genet
JT  - Nature genetics
JID - 9216904
RN  - 0 (Codon)
RN  - 0 (DNA-Binding Proteins)
RN  - 0 (Fushi Tarazu Transcription Factors)
RN  - 0 (Homeodomain Proteins)
RN  - 0 (NR5A1 protein, human)
RN  - 0 (Receptors, Cytoplasmic and Nuclear)
RN  - 0 (Steroidogenic Factor 1)
RN  - 0 (Transcription Factors)
SB  - IM
MH  - Adrenal Insufficiency/*genetics/pathology
MH  - Amino Acid Sequence
MH  - Amino Acid Substitution
MH  - Base Sequence
MH  - Codon/genetics
MH  - DNA-Binding Proteins/chemistry/*genetics
MH  - *Disorders of Sex Development
MH  - Exons
MH  - Female
MH  - Fushi Tarazu Transcription Factors
MH  - Homeodomain Proteins
MH  - Humans
MH  - Male
MH  - Molecular Sequence Data
MH  - Pedigree
MH  - *Point Mutation
MH  - Receptors, Cytoplasmic and Nuclear
MH  - Steroidogenic Factor 1
MH  - Testis/pathology
MH  - Transcription Factors/chemistry/*genetics
MH  - *X Chromosome
MH  - *Y Chromosome
MH  - Zinc Fingers
EDAT- 1999/06/16 10:00
MHDA- 2001/03/23 10:01
CRDT- 1999/06/16 10:00
PHST- 1999/06/16 10:00 [pubmed]
PHST- 2001/03/23 10:01 [medline]
PHST- 1999/06/16 10:00 [entrez]
AID - 10.1038/9629 [doi]
PST - ppublish
SO  - Nat Genet. 1999 Jun;22(2):125-6. doi: 10.1038/9629.