Metatropic dysplasia

Disease ID:623
Name:Metatropic dysplasia
Associated with:1 target
Database Links
OMIM: 156530
Orphanet: ORPHA2635

Targets

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

Ligands

No ligand related data available for Metatropic dysplasia

References

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1. Camacho N, Krakow D, Johnykutty S, Katzman PJ, Pepkowitz S, Vriens J, Nilius B, Boyce BF, Cohn DH. (2010) Dominant TRPV4 mutations in nonlethal and lethal metatropic dysplasia. Am. J. Med. Genet. A, 152A (5): 1169-77. [PMID:20425821]