TY  - GEN
AU  - Zaidi,Syed H E
AU  - Meyer,Sascha
AU  - Peltekova,Vanya D
AU  - Lindinger,Angelika
AU  - Teebi,Ahmad S
AU  - Faiyaz-Ul-Haque,Muhammad
TI  - A novel non-sense mutation in the SLC2A10 gene of an arterial tortuosity syndrome patient of Kurdish origin
SN  - 1432-1076
PY  - 2009///0819
KW  - Abnormalities, Multiple
KW  - genetics
KW  - Arteries
KW  - abnormalities
KW  - Codon, Nonsense
KW  - Connective Tissue
KW  - DNA Mutational Analysis
KW  - Female
KW  - Genes, Recessive
KW  - Glucose Transport Proteins, Facilitative
KW  - deficiency
KW  - Hip Dislocation
KW  - Humans
KW  - Infant
KW  - Pedigree
KW  - Phenotype
KW  - Stomach
KW  - Syndrome
N1  - Publication Type: Case Reports; Journal Article
UR  - https://doi.org/10.1007/s00431-008-0839-2
ER  -