Associated Papers
Geroderma Osteodysplastica: A Narrative Review of Its Genetic Basis, Clinical Features, and Management.
Slaiby N et al.
Clinical Genetics, 2025
Diagnostic implications of pitfalls in causal variant identification based on 4577 molecularly characterized families.
AlAbdi L et al.
Nature Communications, 2023
37644014 (PubMed )
Supplement: 41467_2023_40909_MOESM4_ESM.xlsx › Sheet1
A Case of Geroderma Osteodysplasticum Syndrome: Unique Clinical Findings.
Alotaibi M et al.
Global Medical Genetics, 2022
GORAB scaffolds COPI at the trans-Golgi for efficient enzyme recycling and correct protein glycosylation.
Witkos TM et al.
Nature Communications, 2019
Gorab is a Golgi protein required for structure and duplication of Drosophila centrioles.
Kovacs L et al.
Nature Genetics, 2018
GORAB Missense Mutations Disrupt RAB6 and ARF5 Binding and Golgi Targeting.
Egerer J et al.
The Journal of Investigative Dermatology, 2015
A novel missense mutation in SCYL1BP1 produces geroderma osteodysplastica phenotype indistinguishable from that caused by nullimorphic mutations.
Al-Dosari M et al.
American Journal of Medical Genetics. Part A, 2009
Select a paper to view details