present in Gene: NPR2
present in Chromosome: 9
Position on Chromosome: 35793897
Alleles of this Variant: G/C
rs1554672061 in
NPR2 gene and
Dysmorphic features
PMID 15146390 2004 Mutations in the transmembrane natriuretic peptide receptor NPR-B impair skeletal growth and cause acromesomelic dysplasia, type Maroteaux.
PMID 24259409 2014 Overgrowth syndrome associated with a gain-of-function mutation of the natriuretic peptide receptor 2 (NPR2) gene.
PMID 25703509 2015 Heterozygous mutations in natriuretic peptide receptor-B (NPR2) gene as a cause of short stature.