Growth in individuals with Majewski osteodysplastic primordial dwarfism type II caused by pericentrin mutations

Meier–Gorlin syndrome genotype–phenotype studies: 35 individuals with pre-replication complex gene mutations and 10 without molecular diagnosis

(2012) Sonja A de Munnik et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

The smallest teeth in the world are caused by mutations in the PCNT gene

(2011) Piranit Kantaputra et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

The shortest of the short: Pericentrin mutations and beyond

(2011) Anita Rauch   BEST PRACTICE & RESEARCH CLINICAL ENDOCRINOLOGY & METABOLISM

Genetic Defects in Human Pericentrin Are Associated With Severe Insulin Resistance and Diabetes

(2011) Isabel Huang-Doran et al.   DIABETES

Mechanisms and pathways of growth failure in primordial dwarfism

(2011) A. Klingseisen et al.   GENES & DEVELOPMENT

Mutations in origin recognition complex gene ORC4 cause Meier-Gorlin syndrome

(2011) Duane L Guernsey et al.   NATURE GENETICS

Mutations in ORC1, encoding the largest subunit of the origin recognition complex, cause microcephalic primordial dwarfism resembling Meier-Gorlin syndrome

(2011) Louise S Bicknell et al.   NATURE GENETICS

Mutations in the pre-replication complex cause Meier-Gorlin syndrome

(2011) Louise S Bicknell et al.   NATURE GENETICS

Association of TALS Developmental Disorder with Defect in Minor Splicing Component U4atac snRNA

(2011) P. Edery et al.   SCIENCE

Neuronal migration disorders in microcephalic osteodysplastic primordial dwarfism type I/III

(2010) Gordana Juric-Sekhar et al.   ACTA NEUROPATHOLOGICA

Majewski Osteodysplastic Primordial Dwarfism Type II (MOPD II): Expanding the vascular phenotype

(2010) Michael B. Bober et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

United States Head Circumference Growth Reference Charts: Birth to 21 Years

(2010) Jonathan D. Rollins et al.   JOURNAL OF PEDIATRICS

Molecular analysis of pericentrin gene (PCNT) in a series of 24 Seckel/microcephalic osteodysplastic primordial dwarfism type II (MOPD II) families

(2009) M. Willems et al.   JOURNAL OF MEDICAL GENETICS

Multiple intracranial aneurysms and moyamoya disease associated with microcephalic osteodysplastic primordial dwarfism type II: surgical considerations

(2009) James S. Waldron et al.   Journal of Neurosurgery-Pediatrics

Mutations in the Pericentrin (PCNT) Gene Cause Primordial Dwarfism

(2008) A. Rauch et al.   SCIENCE