Publications

Bartels CF et al.Mutations in the transmembrane natriuretic peptide receptor NPR-B impair skeletal growth and cause acromesomelic dysplasia, type Maroteaux. Am J Hum Genet. 2004;75(1):27-34. PMID: 15146390.

Irfanullah et al.Homozygous Sequence Variants in the NPR2 Gene Underlying Acromesomelic Dysplasia Maroteaux Type (AMDM) in Consanguineous Families.Ann Hum Genet. 2015;79(4):238-244. PMID: 25959430.

Wang W et al.Acromesomelic dysplasia, type maroteaux caused by novel loss-of-function mutations of the NPR2 gene: Three case reports. Am J Med Genet A. 2016;170A(2):426–434. PMID: 26567084.

Wu J et al.Novel Loss-of-Function Mutations in NPR2 Cause Acromesomelic Dysplasia, Maroteaux Type. Front Genet. 2022;13:823861. PMID: 35368703.