Acampomelic Campomelic syndrome

American Journal of Medical Genetics

Volumn 104, Issue 3, 2001, Pages 239-245

  Moog, Ute ^a   Jansen, N J G ^a   Scherer, G ^b   Schrander Stumpel, C T R M ^a  

^a MAASTRICHT UNIVERSITY   (Netherlands)

^b UNIVERSITY OF FREIBURG   (Germany)

Author keywords

Acampomelic campomelic dysostosis; Missense mutation; SOX9 gene

Indexed keywords

ACAMPOMELIC CAMPOMELIC SYNDROME; ARTICLE; AUTOSOMAL DOMINANT DISORDER; CASE REPORT; CHROMOSOME 17Q; CHROMOSOME REARRANGEMENT; DYSOSTOSIS; FACE MALFORMATION; HUMAN; INFANT; KARYOTYPE; MALE; MISSENSE MUTATION; PRIORITY JOURNAL; RESPIRATORY DISTRESS; SKELETON MALFORMATION; TRACHEOMALACIA;

BONE DISEASES, DEVELOPMENTAL; CHILD, PRESCHOOL; FOLLOW-UP STUDIES; HIGH MOBILITY GROUP PROTEINS; HUMANS; INFANT; INFANT, NEWBORN; MALE; MUTATION; MUTATION, MISSENSE; TRANSCRIPTION FACTORS;

EID: 0035576101     PISSN: 01487299     EISSN: None     Source Type: Journal    
DOI: 10.1002/ajmg.10033     Document Type: Article

References (23)

1. SOX9 directly regulates the type-II collagen gene
2. Sex-reversed XY females with campomelic dysplasia are H-Y negative
3. A novel germ line mutation in SOX9 causes familial campomelic dysplasia and sex reversal
4. Campomelic dysplasia without campomelia
5. Campomelic dysplasia and autosomal sex reversal caused by mutations in an SRY-related gene
6. Campomelic dysplasia without overt campomelia
7. SOX9 mutation in a previously published case of campomelic dysplasia without overt campomelia
8. Acampomelic campomelic dysplasia: Further radiographic variations
9. Campomelic dysplasia
10. The campomelic syndrome: Review, report of 17 cases, and follow-up on the currently 17-year-old boy first reported by Maroteaux et al [1971]
11. Evidence to exclude SOX9 as a candidate gene for XY sex reversal without skeletal malformation
12. Campomelic dysplasia: Evidence of autosomal dominant inheritance
13. Acampomelic campomelic dysplasia
14. A clinical and genetic study of campomelic dysplasia
15. Le syndrome campomélique
16. Mutational analysis of the SOX9 gene in campomelic dysplasia and autosomal sex reversal: Lack of genotype/phenotype correlations
17. Campomelic syndrome and deletion of SOX9
18. Campomelic dysplasia translocation breakpoints are scattered over 1 Mb proximal to SOX9: Evidence for an extended control region
19. Vascular anomalies in campomelic syndrome
20. Campomelic dysplasia with or without campomelia: An emerging genotype/phenotype correlation?
21. Acampomelic campomelic dysplasia with SOX9 mutation
22. Autosomal sex reversal and campomelic dysplasia are caused by mutations in and around the SRY-related gene SOX9
23. Campomelic dysplasia without overt campomelia