TY  - GEN
AU  - Campos-Xavier,Belinda
AU  - Rogers,R Curtis
AU  - Niel-Bütschi,Florence
AU  - Ferreira,Catarina
AU  - Unger,Sheila
AU  - Spranger,Jürgen
AU  - Superti-Furga,Andrea
TI  - Confirmation of spondylo-epi-metaphyseal dysplasia with joint laxity, EXOC6B type
SN  - 1552-4833
PY  - 2019///1029
KW  - Child
KW  - Comparative Genomic Hybridization
KW  - Female
KW  - GTP-Binding Proteins
KW  - genetics
KW  - Genetic Testing
KW  - Genetic Variation
KW  - Humans
KW  - Joint Instability
KW  - diagnosis
KW  - Male
KW  - Mutation
KW  - Osteochondrodysplasias
KW  - Phenotype
KW  - Radiography
N1  - Publication Type: Letter
UR  - https://doi.org/10.1002/ajmg.a.40631
ER  -