Apparently normal ovarian differentiation in a prepubertal girl with transcriptionally inactive steroidogenic factor 1 (NR5A1/SF-1) and adrenocortical insufficiency. [electronic resource]
Producer: 20010118Description: 1563-8 p. digitalISSN:- 0002-9297
- Adrenal Gland Diseases -- genetics
- Amino Acid Sequence
- Base Sequence
- Child, Preschool
- DNA -- genetics
- DNA-Binding Proteins -- chemistry
- Female
- Fushi Tarazu Transcription Factors
- Gene Expression Regulation
- Genes, Reporter -- genetics
- Heterozygote
- Homeodomain Proteins
- Humans
- Infant
- Mutation, Missense -- genetics
- Ovary -- growth & development
- Phenotype
- Protein Binding
- Puberty
- Receptors, Cytoplasmic and Nuclear
- Steroidogenic Factor 1
- Transcription Factors -- chemistry
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Publication Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't
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