TY  - GEN
AU  - Ghai,Shailly Jain
AU  - Shago,Mary
AU  - Shroff,Manohar
AU  - Yoon,Grace
TI  - Cockayne syndrome caused by paternally inherited 5 Mb deletion of 10q11.2 and a frameshift mutation of ERCC6
SN  - 1878-0849
PY  - 2011///0928
KW  - Child, Preschool
KW  - Chromosome Banding
KW  - Chromosome Deletion
KW  - Chromosomes, Human, Pair 10
KW  - genetics
KW  - Cockayne Syndrome
KW  - DNA Helicases
KW  - DNA Mutational Analysis
KW  - DNA Repair Enzymes
KW  - Fatal Outcome
KW  - Female
KW  - Frameshift Mutation
KW  - Humans
KW  - Infant
KW  - Poly-ADP-Ribose Binding Proteins
N1  - Publication Type: Case Reports; Journal Article
UR  - https://doi.org/10.1016/j.ejmg.2011.02.008
ER  -