A novel non-sense mutation in the SLC2A10 gene of an arterial tortuosity syndrome patient of Kurdish origin.

Zaidi, Syed H E

A novel non-sense mutation in the SLC2A10 gene of an arterial tortuosity syndrome patient of Kurdish origin. [electronic resource] - European journal of pediatrics Jul 2009 - 867-70 p. digital

Publication Type: Case Reports; Journal Article

1432-1076

10.1007/s00431-008-0839-2 doi


Abnormalities, Multiple--genetics
Arteries--abnormalities
Codon, Nonsense
Connective Tissue--abnormalities
DNA Mutational Analysis
Female
Genes, Recessive
Glucose Transport Proteins, Facilitative--deficiency
Hip Dislocation--genetics
Humans
Infant
Pedigree
Phenotype
Stomach--abnormalities
Syndrome