TY  - GEN
AU  - Menzies,Lara
AU  - Cullup,Tom
AU  - Calder,Alistair
AU  - Wilson,Louise
AU  - Faravelli,Francesca
TI  - A novel homozygous variant in CANT1 in a patient with Kim-type Desbuquois dysplasia
SN  - 1473-5717
PY  - 2020///0204
KW  - Craniofacial Abnormalities
KW  - diagnosis
KW  - Dwarfism
KW  - Facies
KW  - Genetic Testing
KW  - Homozygote
KW  - Humans
KW  - Joint Instability
KW  - Mutation
KW  - Nucleotidases
KW  - genetics
KW  - Ossification, Heterotopic
KW  - Phenotype
KW  - Polydactyly
KW  - Radiography
N1  - Publication Type: Case Reports; Journal Article
UR  - https://doi.org/10.1097/MCD.0000000000000291
ER  -