Intrafamilial variability of XYLT2-related spondyloocular syndrome. [electronic resource]
Producer: 20200206Description: 103585 p. digitalISSN:- 1878-0849
- 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
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Publication Type: Journal Article
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