Defining the phenotype in an autosomal recessive cutis laxa syndrome with a combined congenital defect of glycosylation.

Subjects

Subjects :

DCN 1: Perception and Action.
DCN 3: Neuroinformatics.
IGMD 3: Genomic disorders and inherited multi-system disorders.
IGMD 4: Glycostation disorders.
IGMD 8: Mitochondrial medicine.
NCMLS 1: Immunity, infection and tissue repair.
NCMLS 4: Energy and redox metabolism.
NCMLS 6: Genetics and epigenetic pathways of disease.
UMCN 3.1: Neuromuscular development and genetic disorders.
UMCN 5.1: Genetic defects of metabolism.

Details

Database :

OAIster

Notes :

Lefeber, D.J. author., Urban, Z. author., Meirleir, L. de author., Meinecke, P. author., Gillessen-Kaesbach, G. author., Sykut-Cegielska, J. author., Adamowicz, M. author., Salafsky, I. author., Ranells, J. author., Lemyre, E. author., Reeuwijk, J. van author., Brunner, H.G. author., Wevers, R.A. author.

Accession number :

edsoai.on1443327787