Associated Papers
Genetic Findings in Short Turkish Children Born to Consanguineous Parents.
Joustra SD et al.
Hormone Research in Paediatrics, 2025
DIAPH1 Variants in Non-East Asian Patients With Sporadic Moyamoya Disease.
Kundishora AJ et al.
Jama Neurology, 2021
Microcephalic osteodysplastic primordial dwarfism type II: Additional nine patients with implications on phenotype and genotype correlation.
Abdel-Salam GMH et al.
American Journal of Medical Genetics. Part A, 2020
Microcephalic osteodyplastic primordial dwarfism type II: case report with unique oral findings and a new mutation in the pericentrin gene.
Ghosh S et al.
Oral Surgery, Oral Medicine, Oral Pathology and Oral Radiology, 2020
A Novel PCNT Frame Shift Variant (c.7511delA) Causing Osteodysplastic Primordial Dwarfism of Majewski Type 2 (MOPD II).
Dehghan Tezerjani M et al.
Frontiers in Pediatrics, 2020
Identification of two novel critical mutations in PCNT gene resulting in microcephalic osteodysplastic primordial dwarfism type II associated with multiple intracranial aneurysms.
Li FF et al.
Metabolic Brain Disease, 2015
Inherited neurovascular diseases affecting cerebral blood vessels and smooth muscle.
Sam C et al.
Metabolic Brain Disease, 2015
A new mutation of the PCNT gene in a Colombian patient with microcephalic osteodysplastic primordial dwarfism type II: a case report.
Pachajoa H et al.
Journal of Medical Case Reports, 2014
Striking hematological abnormalities in patients with microcephalic osteodysplastic primordial dwarfism type II (MOPD II): a potential role of pericentrin in hematopoiesis.
Unal S et al.
Pediatric Blood & Cancer, 2014
Molecular analysis of pericentrin gene (PCNT) in a series of 24 Seckel/microcephalic osteodysplastic primordial dwarfism type II (MOPD II) families.
Willems M et al.
Journal of Medical Genetics, 2010
Mutations in the pericentrin (PCNT) gene cause primordial dwarfism.
Rauch A et al.
Science (new York, N.y.), 2008
Select a paper to view details