Condition: EPIPHYSEAL CHONDRODYSPLASIA, MIURA TYPE


rs1554672893 in NPR2 gene and EPIPHYSEAL CHONDRODYSPLASIA, MIURA TYPE PMID 15146390 2004 Mutations in the transmembrane natriuretic peptide receptor NPR-B impair skeletal growth and cause acromesomelic dysplasia, type Maroteaux.

PMID 23065701 2013 A novel loss-of-function mutation in Npr2 clarifies primary role in female reproduction and reveals a potential therapy for acromesomelic dysplasia, Maroteaux type.

PMID 24057292 2013 An activating mutation in the kinase homology domain of the natriuretic peptide receptor-2 causes extremely tall stature without skeletal deformities.

PMID 24259409 2014 Overgrowth syndrome associated with a gain-of-function mutation of the natriuretic peptide receptor 2 (NPR2) gene.

PMID 22870295 2012 An overgrowth disorder associated with excessive production of cGMP due to a gain-of-function mutation of the natriuretic peptide receptor 2 gene.

PMID 23827346 2013 A human skeletal overgrowth mutation increases maximal velocity and blocks desensitization of guanylyl cyclase-B.

rs1563993649 in NPR2;SPAG8 gene and EPIPHYSEAL CHONDRODYSPLASIA, MIURA TYPE PMID 15146390 2004 Mutations in the transmembrane natriuretic peptide receptor NPR-B impair skeletal growth and cause acromesomelic dysplasia, type Maroteaux.