Kleinwuchs, SHOX-bedingt
Der x-chromosomale Kleinwuchs umfasst Erkrankungen die durch Mutationen des SHOX-Gens hervorgerufen werden und sich insbesondere durch eine Mesomelie auszeichnen. Die Vererbung ist dominant oder rezessiv.
Gliederung
Referenzen:
1. |
Rappold GA et al. (2002) Deletions of the homeobox gene SHOX (short stature homeobox) are an important cause of growth failure in children with short stature. [^] |
2. |
Morizio E et al. (2003) Deletion of the SHOX gene in patients with short stature of unknown cause. [^] |
3. |
Ogata T et al. (1992) Chromosomal localisation of a pseudoautosomal growth gene(s). [^] |
4. |
Ogata T et al. (1992) Short stature in a girl with a terminal Xp deletion distal to DXYS15: localisation of a growth gene(s) in the pseudoautosomal region. [^] |
5. |
Sabherwal N et al. (2007) Long-range conserved non-coding SHOX sequences regulate expression in developing chicken limb and are associated with short stature phenotypes in human patients. [^] |
6. |
Henke A et al. (1991) Deletions within the pseudoautosomal region help map three new markers and indicate a possible role of this region in linear growth. [^] |
7. |
Chen J et al. (2009) Enhancer deletions of the SHOX gene as a frequent cause of short stature: the essential role of a 250 kb downstream regulatory domain. [^] |
8. |
Ballabio A et al. (1989) Contiguous gene syndromes due to deletions in the distal short arm of the human X chromosome. [^] |
9. |
Zuffardi O et al. (1982) The role of Yp in sex determination: new evidence from X/Y translocations. [^] |
10. |
Ogata T et al. (1995) 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). [^] |
11. |
Rao E et al. (1997) Pseudoautosomal deletions encompassing a novel homeobox gene cause growth failure in idiopathic short stature and Turner syndrome. [^] |
12. |
Rao E et al. (1997) FISH-deletion mapping defines a 270-kb short stature critical interval in the pseudoautosomal region PAR1 on human sex chromosomes. [^] |
13. |
Ellison JW et al. (1997) PHOG, a candidate gene for involvement in the short stature of Turner syndrome. [^] |
14. |
Binder G et al. (2003) Auxology is a valuable instrument for the clinical diagnosis of SHOX haploinsufficiency in school-age children with unexplained short stature. [^] |
15. |
Deng HW et al. (2002) A whole-genome linkage scan suggests several genomic regions potentially containing QTLs underlying the variation of stature. [^] |
16. |
Blum WF et al. (2007) Growth hormone is effective in treatment of short stature associated with short stature homeobox-containing gene deficiency: Two-year results of a randomized, controlled, multicenter trial. [^] |
17. |
Shanske A et al. (1999) Deletion of the pseudoautosomal region in a male with a unique Y;13 translocation and short stature. [^] |