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

Familial Short Stature-A Novel Phenotype of Growth Plate Collagenopathies.

The Journal of clinical endocrinology and metabolism - 13 May 2021

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

Abstract excerpt

CONTEXT: Collagens are the most abundant proteins in the human body. In a growth plate, collagen types II, IX, X, and XI are present. Defects in collagen genes cause heterogeneous syndromic disorders frequently associated with short stature. Less is known about oligosymptomatic collagenopathies. OBJECTIVE: This work aims to evaluate the frequency of collagenopathies in familial short stature (FSS) children and to...

Read the complete abstract on PubMed

Topics

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

Share to Collagen
Share to Collagen Type XI

Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

Share to Czech Republic

Share to Databases, Factual

Share to Genetic Association Studies

Share to Growth Disorders

Share to Growth Plate

Share to Human Growth Hormone

Source

Identifiers

PMID: 33570564
DOI: 10.1210/clinem/dgab084

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

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

Familial Short Stature-A Novel Phenotype of Growth Plate Collagenopathies.PMID 33570564Read ↗

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

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

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

Genetic causes of isolated short statureSemantic proximity Read ↗

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

Growth plate extracellular matrix defects and short stature in childrenSemantic proximity Read ↗

New developments in the genetic diagnosis of short stature.Semantic proximity Read ↗

New Genetic Diagnoses of Short Stature Provide Insights into Local Regulation of Childhood Growth .Semantic proximity Read ↗

Clinical Characterization of Patients With Autosomal Dominant Short Stature due to Aggrecan Mutations.Semantic proximity Read ↗

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

Monogenic causes of familial short stature.Semantic proximity Read ↗

High prevalence of variants in skeletal dysplasia associated genes in individuals with short stature and minor skeletal anomalies.Semantic proximity Read ↗

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