NPR2

AcronymDefinition
NPR2Nitrogen Permease Regulator 2
References in periodicals archive ?
Whole exome sequencing (WES) performed on the patient and both parents at GeneDx (Gaithersburg, MD) revealed heterozygosity for a p.R921X variant [c.2761 C>T (p.Arg921Ter)] in exon 19 of NPR2 gene in the patient and the mother.
The first report of heterozygous NPR2 mutations identified in patients with short stature was by Olney et al.
Nonspecific skeletal abnormalities have been described in the clinical phenotype of individuals with NPR2 heterozygosity.
Variable responses to rhGH treatment have been reported in 8 patients with NPR2 heterozygosity, with the change in height SDS ranging from - 0.3 to + 1.8 [15].
We describe a patient and her mother whose clinical and radiological evaluation for short stature revealed certain skeletal dysplastic features, with genetic testing confirming NPR2 heterozygosity.
Larger studies are obviously necessary to establish the efficacy of rhGH therapy on final height in patients with NPR2 heterozygosity.
Carmichael et al., "Heterozygous mutations in natriuretic peptide receptor-B (NPR2) gene as a cause of short stature," Human Mutation, vol.
Ito et al., "Identification and functional characterization of two novel NPR2 mutations in Japanese patients with short stature," The Journal of Clinical Endocrinology & Metabolism, vol.
Bartels et al., "Heterozygous mutations in natriuretic peptide receptor-B (NPR2) are associated with short stature," The Journal of Clinical Endocrinology & Metabolism, vol.
Docko et al., "Heterozygous mutations in natriuretic peptide receptor-B (NPR2) gene as a cause of short stature in patients initially classified as idiopathic short stature," The Journal of Clinical Endocrinology & Metabolism, vol.
Santaolalla-Caballero et al., "Heterozygous NPR2 mutations cause disproportionate short stature, similar to Leri-Weill dyschondrosteosis," The Journal of Clinical Endocrinology & Metabolism, vol.