Disease: Microcephalic osteodysplastic primordial dwarfism- type 2
- <em>PCNT</em> point mutations and familial intracranial aneurysms
- "Ocular moyamoya" syndrome in a patient with features of microcephalic osteodysplastic primordial dwarfism type II
- A 10-Year-Old Boy with Short Stature and Microcephaly, Diagnosed with Moyamoya Syndrome and Microcephalic Osteodysplastic Primordial Dwarfism Type II (MOPD II)
- A 17-month-old with extreme prenatal-onset growth delay. Microcephalic osteodysplastic primordial dwarfism type II
- A homozygous mutation in RNU4ATAC as a cause of microcephalic osteodysplastic primordial dwarfism type I (MOPD I) with associated pigmentary disorder
- A new mutation of the PCNT gene in a Colombian patient with microcephalic osteodysplastic primordial dwarfism type II: a case report
- A Novel <em>PCNT</em> Frame Shift Variant (c.7511delA) Causing Osteodysplastic Primordial Dwarfism of Majewski Type 2 (MOPD II)
- A novel homozygous mutation of the PCNT gene in a Chinese patient with microcephalic osteodysplastic primordial dwarfism type II
- A novel role for the centrosomal protein, pericentrin, in regulation of insulin secretory vesicle docking in mouse pancreatic beta-cells
- A unique set of centrosome proteins requires pericentrin for spindle-pole localization and spindle orientation
- A variant microcephalic osteodysplastic slender-bone disorder with growth hormone deficiency and a pigmentary retinopathy
- Anesthetic Considerations in Saul-Wilson Syndrome, a Rare Skeletal Dysplasia: A Case Report
- Angelman syndrome protein UBE3A interacts with primary microcephaly protein ASPM, localizes to centrosomes and regulates chromosome segregation
- Association of Meier-Gorlin and microcephalic osteodysplastic primordial dwarfism type II clinical features in an individual with CDK5RAP2 primary microcephaly
- Association of TALS developmental disorder with defect in minor splicing component U4atac snRNA
- Autopsy case of microcephalic osteodysplastic primordial "dwarfism" type II
- Caroline Crachami and the delineation of osteodysplastic primordial dwarfism type III, and autosomal recessive syndrome
- 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
- 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
- Case report. Microcephalic osteodysplastic primordial dwarfism type II: a child with unusual symptoms and clinical course
- Clinical and genetic heterogeneity of Seckel syndrome
- Clinical relevance of targeted exome sequencing in patients with rare syndromic short stature
- Consequences of Centrosome Dysfunction During Brain Development
- Cranial vault remodeling in microcephalic osteodysplastic primordial dwarfism type II and craniosynostosis
- Cutaneous features associated with microcephalic osteodysplastic primordial dwarfism type II
- Discovering candidate imprinted genes and imprinting control regions in the human genome
- Drosophila pericentrin requires interaction with calmodulin for its function at centrosomes and neuronal basal bodies but not at sperm basal bodies
- 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
- Erratum to: Microcephalic Osteodysplastic Primordial Dwarfism, Type II: a Clinical Review
- Expanding the phenotypic and mutational spectrum in microcephalic osteodysplastic primordial dwarfism type I
- Expected weight gain for children with microcephalic osteodysplastic primordial dwarfism type II
- Extreme microcephaly and growth retardation caused by mutations in a non-coding RNA component of the minor spliceosome
- 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
- Hereditary dentin defects with systemic diseases
- Hip pathology in Majewski osteodysplastic primordial dwarfism type II
- Human DNA damage response and repair deficiency syndromes: linking genomic instability and cell cycle checkpoint proficiency
- Identification of a novel PCNT founder pathogenic variant in the Israeli Druze population
- Identification of three novel mutations in PCNT in vietnamese patients with microcephalic osteodysplastic primordial dwarfism type II
- Identification of two novel critical mutations in PCNT gene resulting in microcephalic osteodysplastic primordial dwarfism type II associated with multiple intracranial aneurysms
- Immunodeficiency in a patient with microcephalic osteodysplastic primordial dwarfism type I as compared to Roifman syndrome
- Inherited neurovascular diseases affecting cerebral blood vessels and smooth muscle
- Macular pigment optical density and its determinants in a Russian population: the ural eye and medical study
- Majewski dwarfism type II: an atypical neuroradiological presentation with a novel variant in the <em>PCNT</em> gene
- Majewski osteodysplastic primordial dwarfism type II (MOPD II) complicated by stroke: clinical report and review of cerebral vascular anomalies
- Majewski/Microcephalic Osteodysplastic Primordial Dwarfism Type II (MOPDII) with generalised microdontia in the 4th millennium BCE Eastern Mediterranean
- Medical management of moyamoya disease and recurrent stroke in an infant with Majewski osteodysplastic primordial dwarfism type II (MOPD II)
- Microcephalic osteodyplastic primordial dwarfism type II: case report with unique oral findings and a new mutation in the pericentrin gene
- Microcephalic osteodysplastic dwarfism (type II-like) in siblings
- Microcephalic Osteodysplastic Primordial Dwarfism in Two Siblings Living in Sindh, Pakistan: A Case Report
- Microcephalic osteodysplastic primordial dwarfism type I with biallelic mutations in the RNU4ATAC gene
- Microcephalic osteodysplastic primordial dwarfism type I/III in sibs
- Microcephalic Osteodysplastic Primordial Dwarfism Type II
- Microcephalic osteodysplastic primordial dwarfism type II
- Microcephalic osteodysplastic primordial dwarfism type II (MOPD II) with multiple vascular complications misdiagnosed as Dubowitz syndrome
- Microcephalic osteodysplastic primordial dwarfism type II and pachygyria: Morphometric analysis in a 2-year-old girl
- Microcephalic osteodysplastic primordial dwarfism type II is associated with global vascular disease
- Microcephalic Osteodysplastic Primordial Dwarfism Type II With Associated Glucose-6-Phosphate Dehydrogenase Deficiency in a Saudi Girl
- Microcephalic osteodysplastic primordial dwarfism type II: a child with cafe au lait lesions, cutis marmorata, and moyamoya disease
- Microcephalic osteodysplastic primordial dwarfism type II: Additional nine patients with implications on phenotype and genotype correlation
- Microcephalic osteodysplastic primordial dwarfism type II: report of three cases and review
- Microcephalic Osteodysplastic Primordial Dwarfism, Type II: a Clinical Review
- Microcephalic osteodysplastic primordial dwarfism, type II. Report of a case with characteristic skeletal features
- Microcephalin and pericentrin regulate mitotic entry via centrosome-associated Chk1
- Microdontia with severe microcephaly and short stature in two brothers: osteodysplastic primordial dwarfism with dental findings
- 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
- Multiple vascular malformations in a patient with microcephalic osteodysplastic primordial dwarfism type ii
- Mutations in CENPE define a novel kinetochore-centromeric mechanism for microcephalic primordial dwarfism
- Mutations in the pericentrin (PCNT) gene cause primordial dwarfism
- Mutations in U4atac snRNA, a component of the minor spliceosome, in the developmental disorder MOPD I
- Neurologic aspects of microcephalic osteodysplastic primordial dwarfism type II
- Neuronal migration disorders in microcephalic osteodysplastic primordial dwarfism type I/III
- New PCNT candidate missense variant in a patient with oral and maxillofacial osteodysplasia: a case report
- Nicolas Ferry (1741-1764), the court dwarf of King Stanislas, probably suffered from microcephalic osteodysplastic primordial dwarfism type II (MOPD II)
- Novel biallelic PCNT deletion causing microcephalic osteodysplastic primordial dwarfism type II with congenital heart defect
- Novel compound heterozygous mutations of <em>PCNT</em> gene in MOPD type II with central precocious puberty
- Novel frameshift variant in the PCNT gene associated with Microcephalic Osteodysplastic Primordial Dwarfism (MOPD) Type II and small kidneys
- Novel PCNT variants in MOPDII with attenuated growth restriction and pachygyria
- Ocular characteristics in a variant microcephalic primordial dwarfism type II
- Pericentrin deficiency in smooth muscle cells augments atherosclerosis through HSF1-driven cholesterol biosynthesis and PERK activation
- Pericentrin: critical for spindle orientation
- Renal Dysplasia and Precocious Diabetes Onset in Microcephalic Osteodysplastic Primordial Dwarfism Type II Syndrome: A Case Report
- Schizophrenia in microcephalic osteodysplastic primordial dwarfism type II syndrome: supporting evidence for an association between the PCNT gene and schizophrenia
- Screening for cerebrovascular disease in microcephalic osteodysplastic primordial dwarfism type II (MOPD II): an evidence-based proposal
- Striking hematological abnormalities in patients with microcephalic osteodysplastic primordial dwarfism type II (MOPD II): a potential role of pericentrin in hematopoiesis
- 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 expanding phenotype of RNU4ATAC pathogenic variants to Lowry Wood syndrome
- The leukemia-associated Rho guanine nucleotide exchange factor LARG is required for efficient replication stress signaling
- The shortest of the short: pericentrin mutations and beyond
- The smallest teeth in the world are caused by mutations in the PCNT gene
- Trends in Serum Cytokine Expression in Pediatric Skeletal Dysplasia
- Two Japanese cases with microcephalic primordial dwarfism: classical Seckel syndrome and osteodysplastic primordial dwarfism type II
- Two novel mutations in RNU4ATAC in two siblings with an atypical mild phenotype of microcephalic osteodysplastic primordial dwarfism type 1
- Whole-Exome and Transcriptome Sequencing Expands the Genotype of Majewski Osteodysplastic Primordial Dwarfism Type II