TY  - GEN
AU  - Denais,Celine
AU  - Dent,Carolyn L
AU  - Southgate,Laura
AU  - Hoyle,Jacqueline
AU  - Dafou,Dimitra
AU  - Trembath,Richard C
AU  - Machado,Rajiv D
TI  - Dymeclin, the gene underlying Dyggve-Melchior-Clausen syndrome, encodes a protein integral to extracellular matrix and golgi organization and is associated with protein secretion pathways critical in bone development
SN  - 1098-1004
PY  - 2011///0324
KW  - Animals
KW  - Bone Development
KW  - Cells, Cultured
KW  - Chondrogenesis
KW  - Cytoplasm
KW  - metabolism
KW  - Dwarfism
KW  - Extracellular Matrix
KW  - Fibroblasts
KW  - Genetic Diseases, X-Linked
KW  - Golgi Apparatus
KW  - HeLa Cells
KW  - Humans
KW  - Intellectual Disability
KW  - Intracellular Signaling Peptides and Proteins
KW  - Mutation
KW  - Osteochondrodysplasias
KW  - congenital
KW  - Proteins
KW  - Skin
KW  - cytology
KW  - Two-Hybrid System Techniques
KW  - Zebrafish
KW  - embryology
N1  - Publication Type: Journal Article; Research Support, Non-U.S. Gov't
UR  - https://doi.org/10.1002/humu.21413
ER  -