A homozygous mutation in RNU4ATAC as a cause of microcephalic osteodysplastic primordial dwarfism type I (MOPD I) with associated pigmentary disorder

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

Homozygous mutation in SAMHD1 gene causes cerebral vasculopathy and early onset stroke

(2011) B. Xin et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Minor Splicing, Disrupted

(2011) H. K. J. Pessa et al.   SCIENCE

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

(2011) P. Edery et al.   SCIENCE

Mutations in U4atac snRNA, a Component of the Minor Spliceosome, in the Developmental Disorder MOPD I

(2011) H. He 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

Novel CENPJ mutation causes Seckel syndrome

(2010) M. S. Al-Dosari et al.   JOURNAL OF MEDICAL GENETICS

Cutaneous Features Associated with Microcephalic Osteodysplastic Primordial Dwarfism Type II

(2008) NAOMI WEBBER et al.   PEDIATRIC DERMATOLOGY

Mutations in the Pericentrin (PCNT) Gene Cause Primordial Dwarfism

(2008) A. Rauch et al.   SCIENCE

The haplo-spliceo-transcriptome: common variations in alternative splicing in the human population

(2007) Brenton R. Graveley   TRENDS IN GENETICS