TY  - GEN
AU  - Guleray,Naz
AU  - Simsek Kiper,Pelin Ozlem
AU  - Utine,Gulen Eda
AU  - Boduroglu,Koray
AU  - Alikasifoglu,Mehmet
TI  - Intrafamilial variability of XYLT2-related spondyloocular syndrome
SN  - 1878-0849
PY  - 2020///0206
KW  - Adolescent
KW  - Adult
KW  - Cataract
KW  - genetics
KW  - Child
KW  - Child, Preschool
KW  - Craniofacial Abnormalities
KW  - Eye Diseases, Hereditary
KW  - Female
KW  - Homozygote
KW  - Humans
KW  - Male
KW  - Musculoskeletal Abnormalities
KW  - Mutation, Missense
KW  - Osteochondrodysplasias
KW  - Osteoporosis
KW  - Pedigree
KW  - Pentosyltransferases
KW  - Phenotype
KW  - Retinal Detachment
KW  - Siblings
KW  - Exome Sequencing
KW  - Young Adult
KW  - UDP Xylose-Protein Xylosyltransferase
N1  - Publication Type: Journal Article
UR  - https://doi.org/10.1016/j.ejmg.2018.11.019
ER  -