Ontology highlight
ABSTRACT:
SUBMITTER: Ferreira CR
PROVIDER: S-EPMC6174323 | biostudies-literature | 2018 Oct
REPOSITORIES: biostudies-literature
Ferreira Carlos R CR Xia Zhi-Jie ZJ Clément Aurélie A Parry David A DA Davids Mariska M Taylan Fulya F Sharma Prashant P Turgeon Coleman T CT Blanco-Sánchez Bernardo B Ng Bobby G BG Logan Clare V CV Wolfe Lynne A LA Solomon Benjamin D BD Cho Megan T MT Douglas Ganka G Carvalho Daniel R DR Bratke Heiko H Haug Marte Gjøl MG Phillips Jennifer B JB Wegner Jeremy J Tiemeyer Michael M Aoki Kazuhiro K Nordgren Ann A Hammarsjö Anna A Duker Angela L AL Rohena Luis L Hove Hanne Buciek HB Ek Jakob J Adams David D Tifft Cynthia J CJ Onyekweli Tito T Weixel Tara T Macnamara Ellen E Radtke Kelly K Powis Zöe Z Earl Dawn D Gabriel Melissa M Russi Alvaro H Serrano AHS Brick Lauren L Kozenko Mariya M Tham Emma E Raymond Kimiyo M KM Phillips John A JA Tiller George E GE Wilson William G WG Hamid Rizwan R Malicdan May C V MCV Nishimura Gen G Grigelioniene Giedre G Jackson Andrew A Westerfield Monte M Bober Michael B MB Gahl William A WA Freeze Hudson H HH
American journal of human genetics 20181001 4
The conserved oligomeric Golgi (COG) complex is involved in intracellular vesicular transport, and is composed of eight subunits distributed in two lobes, lobe A (COG1-4) and lobe B (COG5-8). We describe fourteen individuals with Saul-Wilson syndrome, a rare form of primordial dwarfism with characteristic facial and radiographic features. All affected subjects harbored heterozygous de novo variants in COG4, giving rise to the same recurrent amino acid substitution (p.Gly516Arg). Affected individ ...[more]