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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]