Variant: rs1554672893 

    present in Gene: NPR2
    present in Chromosome: 9
    Position on Chromosome: 35799732
    Alleles of this Variant: G/C

rs1554672893 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 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.

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.