Condition: ACROMESOMELIC DYSPLASIA, MAROTEAUX TYPE


rs1303913631 in NPR2 gene and ACROMESOMELIC DYSPLASIA, MAROTEAUX TYPE PMID 15146390 2004 Mutations in the transmembrane natriuretic peptide receptor NPR-B impair skeletal growth and cause acromesomelic dysplasia, type Maroteaux.

PMID 26980729 2016 Catalytically Active Guanylyl Cyclase B Requires Endoplasmic Reticulum-mediated Glycosylation, and Mutations That Inhibit This Process Cause Dwarfism.

PMID 17652215 2007 Intact kinase homology domain of natriuretic peptide receptor-B is essential for skeletal development.

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.

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