TY  - GEN
AU  - Al-Kindi,Adila
AU  - Kizhakkedath,Praseetha
AU  - Xu,Huifang
AU  - John,Anne
AU  - Sayegh,Abeer Al
AU  - Ganesh,Anuradha
AU  - Al-Awadi,Maha
AU  - Al-Anbouri,Lamya
AU  - Al-Gazali,Lihadh
AU  - Leitinger,Birgit
AU  - Ali,Bassam R
TI  - A novel mutation in DDR2 causing spondylo-meta-epiphyseal dysplasia with short limbs and abnormal calcifications (SMED-SL) results in defective intra-cellular trafficking
SN  - 1471-2350
PY  - 2014///0527
KW  - Base Sequence
KW  - Blotting, Western
KW  - DNA Primers
KW  - genetics
KW  - Discoidin Domain Receptors
KW  - Dwarfism
KW  - diagnostic imaging
KW  - Humans
KW  - Immunohistochemistry
KW  - Microscopy, Confocal
KW  - Molecular Sequence Data
KW  - Mutation, Missense
KW  - Optic Atrophy
KW  - pathology
KW  - Osteochondrodysplasias
KW  - Pedigree
KW  - Phosphorylation
KW  - Protein Transport
KW  - Radiography
KW  - Receptor Protein-Tyrosine Kinases
KW  - Receptors, Mitogen
KW  - Sequence Analysis, DNA
KW  - Sequence Deletion
KW  - Siblings
N1  - Publication Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't
UR  - https://doi.org/10.1186/1471-2350-15-42
ER  -