Spondylometaphyseal dysplasia, Kozlowski type; SMDK

Disease ID:886
Name:Spondylometaphyseal dysplasia, Kozlowski type; SMDK
Associated with:1 target
Database Links
OMIM: 184252
Orphanet: ORPHA93314

Targets

TRPV4
Mutations:  TRPV4 is associated with 2 mutation. Click here for details

Ligands

No ligand related data available for Spondylometaphyseal dysplasia, Kozlowski type; SMDK

References

Show »

1. Krakow D, Vriens J, Camacho N, Luong P, Deixler H, Funari TL, Bacino CA, Irons MB, Holm IA, Sadler L et al.. (2009) Mutations in the gene encoding the calcium-permeable ion channel TRPV4 produce spondylometaphyseal dysplasia, Kozlowski type and metatropic dysplasia. Am. J. Hum. Genet., 84 (3): 307-15. [PMID:19232556]