SHOX in short stature syndromes

Hormone Research

Volumn 55, Issue SUPPL. 1, 2001, Pages 21-23

  Blaschke, Rüdiger J ^a   Rappold, Gudrun A ^a,b  

^a UNIVERSITY OF HEIDELBERG   (Germany)

^b UNIVERSITY HOSPITAL HEIDELBERG   (Germany)

Author keywords

Growth; L ri Weill syndrome; SHOX; Skeletal abnormalities; Transcription factor; Turner syndrome

Indexed keywords

AUTOSOME; BODY HEIGHT; CONFERENCE PAPER; DYSCHONDROSTEOSIS; GENE MUTATION; HEREDITY; HUMAN; PRIORITY JOURNAL; SHORT STATURE; SYNDROME; TURNER SYNDROME;

EID: 0034938881     PISSN: 03010163     EISSN: None     Source Type: Journal    
DOI: 10.1159/000063458     Document Type: Conference Paper

References (26)

1. Sex chromosome aberrations and stature: Deduction of the principal factors involved in the determination of adult height
2. Localization of male determining factors in man: A thorough review of structural anomalities of the Y chromosome
3. The human Y chromosome: A 43-interval map based on naturally occurring deletions
4. Contiguous gene syndrome due to deletions in the distal short arm of the human X chromosome
5. Short stature in a girl with a terminal Xp deletion distal to DXYS15: Localisation of a growth gene(s) in the pseudoautosomal region
6. Short stature in a girl with partial monosomy of the pseudoautosomal region distal to DXYS15: Further evidence for the assignment of the critical region for a pseudoautosomal growth gene(s)
7. FISH-deletion mapping defines a 270 kb short stature critical interval in the pseudoautosomal region PAR1 on the human sex chromosomes
8. Pseudoautosomal deletions encompassing a novel homeobox gene cause growth failure in idiopathic short stature and Turner syndrome
9. PHOG, a candidate gene for involvement in the short stature of Turner syndrome
10. Die spontane Subluxation der Hand nach vorne
11. Une affection congénitale et symmétrique du development osseux: La dyschondrostéose
12. Mesomelic dwarfism as the homozygous expression of dyschondrosteosis
13. Langer type of mesomelic dysplasia as the possible homozygous expression of dyschondrosteosis
14. Mesomelic dysplasia, type Langer - A homozygous state for dyschondrosteosis
15. Sex-influenced expression of Madelung's deformity in a family with dyschondrosteosis
16. SHOX mutations in dyschondrosteosis (Leri-Weill syndrome)
17. Mutation and deletion of the pseudoautosomal gene SHOX cause Leri-Weill dyschondrosteosis
18. Phenotypic variation and genetic heterogeneity in Leri-Weill syndrome
19. Über typische Kombinationsbilder multipler Abartungen
20. A syndrome of infantilism, congenital webbed neck, and cubitus valgus
21. Turner syndrome and female sex chromosome aberrations: Deduction of the principal factors involved in the development of clinical features
22. Recommendation for diagnosis, treatment, and management of individuals with Turner syndrome
23. Chromosomal localisation of a gene(s) for Turner stigmata on Yp
24. The short stature homeobox gene SHOX is involved in skeletal abnormalities in Turner syndrome
25. Skeletal features and growth patterns in 14 patients with haploinsufficiency of SHOX: Implications for the development of Turner syndrome