TY  - GEN
AU  - Bui,Catherine
AU  - Huber,Céline
AU  - Tuysuz,Beyhan
AU  - Alanay,Yasemin
AU  - Bole-Feysot,Christine
AU  - Leroy,Jules G
AU  - Mortier,Geert
AU  - Nitschke,Patrick
AU  - Munnich,Arnold
AU  - Cormier-Daire,Valérie
TI  - XYLT1 mutations in Desbuquois dysplasia type 2
SN  - 1537-6605
PY  - 2014///0501
KW  - Adolescent
KW  - Adult
KW  - Bone and Bones
KW  - metabolism
KW  - Child
KW  - Consanguinity
KW  - Craniofacial Abnormalities
KW  - genetics
KW  - DNA, Complementary
KW  - Dwarfism
KW  - Exome
KW  - Female
KW  - Fibroblasts
KW  - Genetic Predisposition to Disease
KW  - Homozygote
KW  - Humans
KW  - Joint Instability
KW  - Male
KW  - Microsatellite Repeats
KW  - Mutation
KW  - Ossification, Heterotopic
KW  - Pentosyltransferases
KW  - Polydactyly
KW  - Proteoglycans
KW  - Sequence Analysis, DNA
KW  - UDP Xylose-Protein Xylosyltransferase
N1  - Publication Type: Journal Article; Research Support, Non-U.S. Gov't
UR  - https://doi.org/10.1016/j.ajhg.2014.01.020
ER  -