TY  - GEN
AU  - Shi,Lisong
AU  - Luo,Chunyan
AU  - Ahmed,Mairaj K
AU  - Attaie,Ali B
AU  - Ye,Xiaoqian
TI  - Novel mutations in EVC cause aberrant splicing in Ellis-van Creveld syndrome
SN  - 1617-4623
PY  - 2016///0808
KW  - Abnormalities, Multiple
KW  - genetics
KW  - Adult
KW  - Alternative Splicing
KW  - DNA Mutational Analysis
KW  - Ellis-Van Creveld Syndrome
KW  - Exons
KW  - Female
KW  - Heterozygote
KW  - Humans
KW  - Infant
KW  - Intercellular Signaling Peptides and Proteins
KW  - Introns
KW  - Limb Deformities, Congenital
KW  - Male
KW  - Membrane Proteins
KW  - Mutation
KW  - Pedigree
KW  - Phenotype
KW  - Proteins
KW  - RNA Splice Sites
KW  - Tooth Abnormalities
N1  - Publication Type: Journal Article; Research Support, Non-U.S. Gov't
UR  - https://doi.org/10.1007/s00438-015-1151-2
ER  -