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

Journal of Medical Genetics

Volumn 33, Issue 9, 1996, Pages 800-801

  Kwok, C ^a   Goodfellow, P N ^a   Hawkins, J R ^a,b  

^a UNIVERSITY OF CAMBRIDGE   (United Kingdom)

^b ADDENBROOKE S HOSPITAL   (United Kingdom)

Author keywords

Campomelic dysplasia; SOX9; XY sex reversal

Indexed keywords

ARTICLE; CHROMOSOME BREAKAGE; CHROMOSOME REARRANGEMENT; CLINICAL ARTICLE; CONTROLLED STUDY; DYSPLASIA; GENE MUTATION; GENETIC SCREENING; HUMAN; HUMAN CELL; KARYOTYPE 46,XY; PHENOTYPE; PRIORITY JOURNAL; SEX TRANSFORMATION; SKELETON MALFORMATION;

EID: 0029769509     PISSN: 00222593     EISSN: None     Source Type: Journal    
DOI: 10.1136/jmg.33.9.800     Document Type: Article

References (8)

1. Mansour S, Hall CM, Pembrey ME, Young ID. A clinical and genetic study of campomelic dysplasia. J Med Genet 1995;32:415-20.
2. Houston CS, Opitz JM, Spranger JW, et al. The campomelic syndrome: review, report of 17 cases, and follow-up on the currently 17-year-old boy first reported by Maroteaux et al in 1971. Am J Med Genet 1983;15:3-28.
3. Foster JW, Dominguez-Steglich MA, Guioli S, et al. Campomelic dysplasia and autosomal sex reversal caused by mutations in an SRY-related gene. Nature 1994;372:525-30.
4. Wagner T, Wirth J, Meyer J, et al. Autosomal sex reversal and campomelic dysplasia are caused by mutations in and around the SRY-related gene SOX9. Cell 1994;79:1111-20.
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6. Hawkins JR. Genetics of XY sex reversal. J Endocrinol 1995;147:183-7.
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8. Berkovitz GD, Fechner PY, Zacur HW, et al. Clinical and pathological spectrum of 46, XY gonadal dysgenesis: its relevance to the understanding of sex differentiation. Medicine 1991;70:375-83.