Heterozygous 5p13.3-13.2 deletion in a patient with type I Chiari malformation and bilateral Duane retraction syndrome.
Bayrakli
F
F
Bilguvar
K
K
Ceyhan
D
D
Ercan-Sencicek
A G
AG
Cankaya
T
T
Bayrakli
S
S
Guney
I
I
Mane
S M
SM
State
M W
MW
Gunel
M
M
D000010:Abducens Nerve / Q000473:pathology; D001139:Arnold-Chiari Malformation / Q000150:complications* / Q000235:genetics*; D002872:Chromosome Deletion; D002895:Chromosomes, Human, Pair 5 / Q000235:genetics*; D056915:DNA Copy Number Variations / Q000235:genetics; D004370:Duane Retraction Syndrome / Q000150:complications* / Q000235:genetics*; D006579:Heterozygote; D006801:Humans; D008297:Male; D016133:Polymerase Chain Reaction; D055815:Young Adult