Evidence to exclude SOX9 as a candidate gene for XY sex reversal without skeletal malformation.

doi:10.1136/jmg.33.9.800

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Article

Evidence to exclude SOX9 as a candidate gene for XY sex reversal without skeletal malformation.

Journal of medical genetics - 1 Sept 1996

Kwok C, Goodfellow P N, Hawkins J R

Abstract excerpt

The skeletal malformation syndrome campomelic dysplasia (CMD1) is caused by mutations within the SOX9 gene or chromosomal rearrangement breakpoints outside SOX9. Approximately three quarters of cases of CMD1 in XY subjects show complete or partial sex reversal. As some mutations cause CMD1 alone...

Topics

Disorders of Sex Development
Exons
Female
High Mobility Group Proteins
Humans
Male
Osteochondrodysplasias
Phenotype
SOX9 Transcription Factor
Sex Differentiation
Transcription Factors

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