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

Primordial dwarfism: an update.

Current opinion in endocrinology, diabetes, and obesity - 1 Feb 2015

Alkuraya Fowzan S

Abstract excerpt

PURPOSE OF REVIEW: To review the recent advances in the clinical and molecular characterization of primordial dwarfism, an extreme growth deficiency disorder that has its onset during embryonic development and persists throughout life. RECENT FINDINGS: The last decade has witnessed an unprecedented acceleration in the discovery of genes mutated in primordial dwarfism, from one gene to more than a dozen genes....

Read the complete abstract on PubMed

Topics

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

Share to Cell Proliferation
Share to Dwarfism
Share to Facies

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Genome-Wide Association Study

Share to Microcephaly

Share to Mutation

Share to Practice Guidelines as Topic

Source

Identifiers

PMID: 25490023
DOI: 10.1097/MED.0000000000000121

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

Primordial dwarfism: an update.PMID 25490023Read ↗

Mechanisms and pathways of growth failure in primordial dwarfism.Semantic proximity Read ↗

[Research advance on the clinical phenotypes and molecular genetic mechanisms of Microcephalic primordial dwarfism].Semantic proximity Read ↗

Microcephalic Osteodysplastic Primordial Dwarfism, Type II: a Clinical ReviewSemantic proximity Read ↗

Primordial dwarfism: overview of clinical and genetic aspectsSemantic proximity Read ↗

Mutation in PLK4, encoding a master regulator of centriole formation, defines a novel locus for primordial dwarfism.Semantic proximity Read ↗

POC1A truncation mutation causes a ciliopathy in humans characterized by primordial dwarfism.Semantic proximity Read ↗

Whole-Exome and Transcriptome Sequencing Expands the Genotype of Majewski Osteodysplastic Primordial Dwarfism Type II.Semantic proximity Read ↗

<i>DONSON</i> , a gene responsible for microcephalic primordial dwarfism, ensures proper centriole duplication cycle by maintaining centriole engagement during interphaseSemantic proximity Read ↗

Genomic analysis of primordial dwarfism reveals novel disease genes.Semantic proximity Read ↗

Analysis of centrosome and DNA damage response in PLK4 associated Seckel syndrome.Semantic proximity Read ↗

Mutations in PLK4, encoding a master regulator of centriole biogenesis, cause microcephaly, growth failure and retinopathy.Semantic proximity Read ↗

Microcephalic primordial dwarfism with predominant Meier-Gorlin phenotype, ichthyosis, and multiple joint deformities-Further expansion of DONSON Cell Cycle-opathy phenotypic spectrum.Semantic proximity Read ↗

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