Intrafamilial variability of XYLT2-related spondyloocular syndrome.

Guleray, Naz

Intrafamilial variability of XYLT2-related spondyloocular syndrome. [electronic resource] - European journal of medical genetics Nov 2019 - 103585 p. digital

Publication Type: Journal Article

1878-0849

10.1016/j.ejmg.2018.11.019 doi


Adolescent
Adult
Cataract--genetics
Child
Child, Preschool
Craniofacial Abnormalities--genetics
Eye Diseases, Hereditary--genetics
Female
Homozygote
Humans
Male
Musculoskeletal Abnormalities--genetics
Mutation, Missense--genetics
Osteochondrodysplasias--genetics
Osteoporosis--genetics
Pedigree
Pentosyltransferases--genetics
Phenotype
Retinal Detachment--genetics
Siblings
Exome Sequencing
Young Adult
UDP Xylose-Protein Xylosyltransferase