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

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

Journal of pediatric endocrinology & metabolism : JPEM - 1 Jan 2017

Vasques Gabriela A, Hisado-Oliva Alfonso, Funari Mariana F A, Lerario Antonio M, Quedas Elisangela P S, Solberg Paulo, Heath Karen E, Jorge Alexander A L

Abstract excerpt

BACKGROUND: Heterozygous loss-of-function mutations in the natriuretic peptide receptor B gene (NPR2) are responsible for short stature in patients without a distinct phenotype. Some of these patients have been treated with recombinant human growth hormone (rhGH) therapy with a variable response. CASE PRESENTATION: The proband was a healthy boy who presented at the age of 5.1 years with familial short stature...

Read the complete abstract on PubMed

Topics

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

Share to Body Height
Share to Dwarfism

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Growth Disorders

Share to Heterozygote

Share to Human Growth Hormone

Share to Insulin-Like Growth Factor I

Share to Prognosis

Share to Receptors, Atrial Natriuretic Factor

Source

Identifiers

PMID: 27941173
DOI: 10.1515/jpem-2016-0280

Genes

NPR2
SDS

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Long-term response to growth hormone therapy in a patient with short stature caused by a novel heterozygous mutation in NPR2.PMID 27941173Read ↗

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

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

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

Clinical Characteristics of Short-Stature Patients With an NPR2 Mutation 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 ↗

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

Role of NPR2 mutation in idiopathic short stature: Identification of two novel mutationsSemantic proximity Read ↗

Identification and functional analysis of NPR2 truncating mutations in two Chinese families with short stature.Semantic proximity Read ↗

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

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

MECHANISMS IN ENDOCRINOLOGY: Novel genetic causes of short statureSemantic proximity Read ↗

Identification and functional analysis of NPR2 truncating mutations in two Chinese families with Short StatureSemantic proximity Read ↗

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