TY  - GEN
AU  - Dupuis,Nina
AU  - Lebon,Sophie
AU  - Kumar,Manoj
AU  - Drunat,Séverine
AU  - Graul-Neumann,Luitgard M
AU  - Gressens,Pierre
AU  - El Ghouzzi,Vincent
TI  - A novel RAB33B mutation in Smith-McCort dysplasia
SN  - 1098-1004
PY  - 2013///0726
KW  - Dwarfism
KW  - genetics
KW  - Exome
KW  - Genetic Diseases, X-Linked
KW  - Genetic Heterogeneity
KW  - Golgi Apparatus
KW  - Humans
KW  - Intellectual Disability
KW  - Intracellular Signaling Peptides and Proteins
KW  - Male
KW  - Mutation
KW  - Osteochondrodysplasias
KW  - congenital
KW  - Phenotype
KW  - Proteins
KW  - Sequence Analysis
KW  - Young Adult
KW  - rab GTP-Binding Proteins
N1  - Publication Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't
UR  - https://doi.org/10.1002/humu.22235
ER  -