Deutsch
IllnessKleinwuchs, idiopatisch; SHOX-Gen
Summary
Short information
YHS991_KI
ID
YHS991
Number of loci
| Loci type | Count |
|---|---|
| Gen | 1 |
Examined sequence length
0,9 kb (Core-/Core-canditate-Genes)
- (Extended panel: incl. additional genes)
- (Extended panel: incl. additional genes)
Analysis Duration
on request
Test material
- EDTA-anticoagulated blood (3-5 ml)
Diagnostic indications
YHS991_DH
Loci panel
Gen
| Name | Exon Length (bp) | OMIM-G | Referenz-Seq. | Heredity |
|---|---|---|---|---|
| SHOX | 879 | NM_000451.4, NM_006883.2 | PD/PR |
Informations about the disease
Clinical Comment
illness_ClinicalComment_YHS991
Synonyms
- Langer mesomelic dysplasia (SHOX)
- Leri-Weill dyschondrosteosis (SHOX)
- Short stature, idiopathic familial (SHOX)
Heredity, heredity patterns etc.
- PD/PR
OMIM-Ps
ICD10 Code
Bioinformatics and clinical interpretation
No text defined