Disease: Microcephalic osteodysplastic primordial dwarfism- type 3
- <em>PCNT</em> point mutations and familial intracranial aneurysms
- A variant microcephalic osteodysplastic slender-bone disorder with growth hormone deficiency and a pigmentary retinopathy
- An unusual association of microcephalic osteodysplastic primordial dwarfism type I with cardiac and brain anomalies
- Anesthetic Considerations in Saul-Wilson Syndrome, a Rare Skeletal Dysplasia: A Case Report
- Association of Meier-Gorlin and microcephalic osteodysplastic primordial dwarfism type II clinical features in an individual with CDK5RAP2 primary microcephaly
- Case Report: short stature, kidney anomalies, and cerebral aneurysms in a novel homozygous mutation in the <em>PCNT</em> gene associated with microcephalic osteodysplastic primordial dwarfism type II
- Cdk5rap2 interacts with pericentrin to maintain the neural progenitor pool in the developing neocortex
- Central nervous system vasculopathy and Seckel syndrome: case illustration and systematic review
- Clinical and genetic heterogeneity of Seckel syndrome
- Clinical relevance of targeted exome sequencing in patients with rare syndromic short stature
- Cutaneous features associated with microcephalic osteodysplastic primordial dwarfism type II
- Effect of recombinant insulin-like growth factor-1 treatment on short-term linear growth in a child with Majewski osteodysplastic primordial dwarfism type II and hepatic insufficiency
- Expanding the phenotypic and mutational spectrum in microcephalic osteodysplastic primordial dwarfism type I
- Genetic Characterization of Short Stature Patients With Overlapping Features of Growth Hormone Insensitivity Syndromes
- Growth in individuals with Majewski osteodysplastic primordial dwarfism type II caused by pericentrin mutations
- Hip pathology in Majewski osteodysplastic primordial dwarfism type II
- Identification of compound heterozygous variants in the noncoding RNU4ATAC gene in a Chinese family with two successive foetuses with severe microcephaly
- Immunodeficiency in a patient with microcephalic osteodysplastic primordial dwarfism type I as compared to Roifman syndrome
- Majewski osteodysplastic primordial dwarfism type II (MOPD II) complicated by stroke: clinical report and review of cerebral vascular anomalies
- Majewski osteodysplastic primordial dwarfism type II (MOPD II) syndrome previously diagnosed as Seckel syndrome: report of a novel mutation of the PCNT gene
- Microcephalic osteodysplastic primordial dwarfism type II
- Microcephalic osteodysplastic primordial dwarfism type II is associated with global vascular disease
- Microcephalic osteodysplastic primordial dwarfism type II: report of three cases and review
- Minor class splicing shapes the zebrafish transcriptome during development
- Modifier Genes in Microcephaly: A Report on <em>WDR62</em>, <em>CEP63</em>, <em>RAD50</em> and <em>PCNT</em> Variants Exacerbating Disease Caused by Biallelic Mutations of <em>ASPM</em> and <e
- Molecular analysis of pericentrin gene (PCNT) in a series of 24 Seckel/microcephalic osteodysplastic primordial dwarfism type II (MOPD II) families
- Multiple intracranial aneurysms and moyamoya disease associated with microcephalic osteodysplastic primordial dwarfism type II: surgical considerations
- Mutations in the pericentrin (PCNT) gene cause primordial dwarfism
- Novel PCNT variants in MOPDII with attenuated growth restriction and pachygyria
- Pachygyria in a girl with microcephalic osteodysplastic primordial short stature type II
- Renal tubular leakage complicating microcephalic osteodysplastic primordial dwarfism
- Screening for cerebrovascular disease in microcephalic osteodysplastic primordial dwarfism type II (MOPD II): an evidence-based proposal
- Strong variable clinical presentation in 3 patients with 7q terminal deletion
- Surgical outcomes of Majewski osteodysplastic primordial dwarfism Type II with intracranial vascular anomalies
- The Indirect Victims of COVID-19: Perception of Non-COVID-19 Patients about the Effect of Closure of the Medical Outpatient Services on their Health
- The neurologic findings in Taybi-Linder syndrome (MOPD I/III): case report and review of the literature