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

Microcephalic osteodysplastic primordial dwarfism type II and pachygyria: Morphometric analysis in a 2-year-old girl.

American journal of medical genetics. Part A - 1 Oct 2020

Rossi-Espagnet Maria C, Dentici Maria L, Pasquini Luca, Carducci Chiara, Lucignani Martina, Longo Daniela, Agolini Emanuele, Novelli Antonio, Gonfiantini Michaela V, Digilio Maria C, Napolitano Antonio, Bartuli Andrea

Abstract excerpt

Microcephalic osteodysplastic primordial dwarfism (MOPD) type II is a rare disorder characterized by skeletal dysplasia, severe proportionate short stature, insulin resistance and cerebrovascular abnormalities including cerebral aneurysms and moyamoya disease. MOPD type II is caused by mutations in the pericentrin (PCNT) gene, which encodes a protein involved in centrosomes function. We report a 2 year old girl...

Read the complete abstract on PubMed

Topics

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

Share to Antigens
Share to Child, Preschool

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Dwarfism

Share to Fetal Growth Retardation

Share to Lissencephaly

Share to Magnetic Resonance Imaging

Share to Microcephaly

Share to Osteochondrodysplasias

Source

Identifiers

PMID: 32744776
DOI: 10.1002/ajmg.a.61771

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 3 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Microcephalic osteodysplastic primordial dwarfism type II and pachygyria: Morphometric analysis in a 2-year-old girl.PMID 32744776Read ↗

Case Report: short stature, kidney anomalies, and cerebral aneurysms in a novel homozygous mutation in the PCNT gene associated with microcephalic osteodysplastic primordial dwarfism type II.Semantic proximity Read ↗

Microcephalic osteodysplastic primordial dwarfism type II: Additional nine patients with implications on phenotype and genotype correlation.Semantic proximity Read ↗

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

Majewski osteodysplastic primordial dwarfism type II (MOPD II) syndrome previously diagnosed as Seckel syndrome: report of a novel mutation of the PCNT gene.Semantic proximity Read ↗

Novel PCNT variants in MOPDII with attenuated growth restriction and pachygyria.Semantic proximity Read ↗

Novel frameshift variant in the PCNT gene associated with Microcephalic Osteodysplastic Primordial Dwarfism (MOPD) Type II and small kidneys.Semantic proximity Read ↗

Mutations in the pericentrin (PCNT) gene cause primordial dwarfism.Semantic proximity Read ↗

The shortest of the short: pericentrin mutations and beyond.Semantic proximity Read ↗

Microcephalic osteodysplastic primordial dwarfism type II (MOPD II) with multiple vascular complications misdiagnosed as Dubowitz syndrome.Semantic proximity Read ↗

Brain morphometry and psychomotor development in children with PCH2ASemantic proximity Read ↗

Striking hematological abnormalities in patients with microcephalic osteodysplastic primordial dwarfism type II (MOPD II): a potential role of pericentrin in hematopoiesis.Semantic proximity Read ↗

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

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