Disruption of a long distance regulatory region upstream of SOX9 in isolated disorders of sex development. [electronic resource]
Producer: 20120308Description: 825-30 p. digitalISSN:- 1468-6244
- 46, XX Disorders of Sex Development -- genetics
- Alleles
- Child
- Chromosome Mapping
- Comparative Genomic Hybridization
- DNA Copy Number Variations
- Female
- Gene Duplication
- Gonadal Dysgenesis, 46,XY -- genetics
- Gonadoblastoma -- genetics
- Haplotypes
- Humans
- Infant
- Male
- Pedigree
- Regulatory Sequences, Nucleic Acid
- SOX9 Transcription Factor -- genetics
- Sex-Determining Region Y Protein -- genetics
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Publication Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't
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