Associated Papers
Clinical Characteristics of Short-Stature Patients With an NPR2 Mutation and the Therapeutic Response to rhGH.
Ke X et al.
The Journal of Clinical Endocrinology and Metabolism, 2021
Molecular and in silico analyses validates pathogenicity of homozygous mutations in the NPR2 gene underlying variable phenotypes of Acromesomelic dysplasia, type Maroteaux.
Irfanullah et al.
The International Journal of Biochemistry & Cell Biology, 2018
Genetics of human isolated acromesomelic dysplasia.
Khan S et al.
European Journal of Medical Genetics, 2016
Role of the natriuretic peptide system in normal growth and growth disorders.
Vasques GA et al.
Hormone Research in Paediatrics, 2014
Heterozygous mutations in natriuretic peptide receptor-B (NPR2) gene as a cause of short stature in patients initially classified as idiopathic short stature.
Vasques GA et al.
The Journal of Clinical Endocrinology and Metabolism, 2013
Novel mutations in natriuretic peptide receptor-2 gene underlie acromesomelic dysplasia, type maroteaux.
Khan S et al.
Bmc Medical Genetics, 2012
Defective cellular trafficking of missense NPR-B mutants is the major mechanism underlying acromesomelic dysplasia-type Maroteaux.
Hume AN et al.
Human Molecular Genetics, 2009
Mutations in the transmembrane natriuretic peptide receptor NPR-B impair skeletal growth and cause acromesomelic dysplasia, type Maroteaux.
Bartels CF et al.
American Journal of Human Genetics, 2004
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