Associated Papers
Geroderma Osteodysplastica: A Narrative Review of Its Genetic Basis, Clinical Features, and Management.
Slaiby N et al.
Clinical Genetics, 2025
A de novo 1q23.3-q24.2 deletion combined with a GORAB missense mutation causes a distinctive phenotype with cutis laxa.
Al-Bughaili M et al.
Journal of Human Genetics, 2017
GORAB Missense Mutations Disrupt RAB6 and ARF5 Binding and Golgi Targeting.
Egerer J et al.
The Journal of Investigative Dermatology, 2015
Clinical and biochemical features guiding the diagnostics in neurometabolic cutis laxa.
Gardeitchik T et al.
European Journal of Human Genetics : Ejhg, 2014
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