Discover Community Create You

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

NPR2 Variants Are Frequent among Children with Familiar Short Stature and Respond Well to Growth Hormone Therapy.

The Journal of clinical endocrinology and metabolism - 1 Mar 2020

Plachy Lukas, Dusatkova Petra, Maratova Klara, Petruzelkova Lenka, Zemkova Dana, Elblova Lenka, Kucerova Petra, Toni Ledjona, Kolouskova Stanislava, Snajderova Marta, Sumnik Zdenek, Lebl Jan, Pruhova Stepanka

Abstract excerpt

CONTEXT: The C-type natriuretic peptide receptor encoded by the NPR2 gene is a paracrine regulator of the growth plate; heterozygous NPR2 variants cause short stature with possible presence of different signs of bone dysplasia. To date, the effect of growth hormone (GH) treatment has been described in a few individuals with NPR2 gene variants with inconsistent results. OBJECTIVES: To identify NPR2 gene variants...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Biomarkers
Share to Body Height

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Cohort Studies

Share to Dwarfism

Share to Follow-Up Studies

Share to Human Growth Hormone

Share to Prognosis

Share to Receptors, Atrial Natriuretic Factor

Source

Identifiers

PMID: 31990356
DOI: 10.1210/clinem/dgaa037

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

NPR2 Variants Are Frequent among Children with Familiar Short Stature and Respond Well to Growth Hormone Therapy.PMID 31990356Read ↗

NPR2 gene variants in familial short stature: a single-center study.Semantic proximity Read ↗

Long-term response to growth hormone therapy in a patient with short stature caused by a novel heterozygous mutation in NPR2.Semantic proximity Read ↗

Clinical Characteristics of Short-Stature Patients With an NPR2 Mutation and the Therapeutic Response to rhGH.Semantic proximity Read ↗

Short Stature is Progressive in Patients with Heterozygous NPR2 Mutations.Semantic proximity Read ↗

Heterozygous mutations in natriuretic peptide receptor-B (NPR2) gene as a cause of short stature.Semantic proximity Read ↗

High Prevalence of Growth Plate Gene Variants in Children With Familial Short Stature Treated With GHSemantic proximity Read ↗

Novel pathogenic NPR2 variants in short stature patients and the therapeutic response to rhGH.Semantic proximity Read ↗

Heterozygous mutations in natriuretic peptide receptor-B (NPR2) gene as a cause of short stature in patients initially classified as idiopathic short stature.Semantic proximity Read ↗

Familial Short Stature-A Novel Phenotype of Growth Plate Collagenopathies.Semantic proximity Read ↗

Novel Pathogenic NPR2 Variants in Short Stature Patients and the Therapeutic Response to rhGHSemantic proximity Read ↗

Idiopathic Short Stature: What to Expect from Genomic InvestigationsSemantic proximity Read ↗

Functional analysis of NPR2 variants supports the therapeutic rationale for CNP in short stature.Semantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.