Associated Papers
Geroderma Osteodysplastica: A Narrative Review of Its Genetic Basis, Clinical Features, and Management.
Slaiby N et al.
Clinical Genetics, 2025
Prime editing-installed suppressor tRNAs for disease-agnostic genome editing.
Pierce SE et al.
Nature, 2025
41261131 (PubMed )
Supplement: 41586_2025_9732_MOESM17_ESM.xlsx › Sequence_Context_Screen
A Case of Geroderma Osteodysplasticum Syndrome: Unique Clinical Findings.
Alotaibi M et al.
Global Medical Genetics, 2022
Sugary Logistics Gone Wrong: Membrane Trafficking and Congenital Disorders of Glycosylation.
Linders PTA et al.
International Journal of Molecular Sciences, 2020
Clinical and biochemical features guiding the diagnostics in neurometabolic cutis laxa.
Gardeitchik T et al.
European Journal of Human Genetics : Ejhg, 2014
Gerodermia osteodysplastica is caused by mutations in SCYL1BP1, a Rab-6 interacting golgin.
Hennies HC et al.
Nature Genetics, 2008
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