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Parastremmatic dysplasia
LE WE PMID CA
Parastremmatic dysplasia11750Parastremmatic dysplasia

Parastremmatic dysplasia

Spondyloepiphyseal dysplasia Maroteaux type Pseudo Morquio syndrome type 2

TRPV4

2010  
1
Spondylo-epiphyseal dysplasia, Maroteaux type (pseudo-Morquio syndrome type 2), and parastremmatic dysplasia are caused by TRPV4 mutations.
[20503319] Am J Med Genet A 152A(6): 1443-9 (2010)

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