TY  - GEN
AU  - Niceta,M
AU  - Margiotti,K
AU  - Digilio,M C
AU  - Guida,V
AU  - Bruselles,A
AU  - Pizzi,S
AU  - Ferraris,A
AU  - Memo,L
AU  - Laforgia,N
AU  - Dentici,M L
AU  - Consoli,F
AU  - Torrente,I
AU  - Ruiz-Perez,V L
AU  - Dallapiccola,B
AU  - Marino,B
AU  - De Luca,A
AU  - Tartaglia,M
TI  - Biallelic mutations in DYNC2LI1 are a rare cause of Ellis-van Creveld syndrome
SN  - 1399-0004
PY  - 2019///0911
KW  - Adolescent
KW  - Adult
KW  - Alleles
KW  - Child
KW  - Child, Preschool
KW  - Cytoplasmic Dyneins
KW  - genetics
KW  - Ellis-Van Creveld Syndrome
KW  - diagnosis
KW  - Female
KW  - Genetic Association Studies
KW  - Genetic Predisposition to Disease
KW  - Genetic Testing
KW  - Humans
KW  - Male
KW  - Mutation
KW  - Odds Ratio
KW  - Pedigree
KW  - Phenotype
KW  - Radiography
KW  - Exome Sequencing
KW  - Young Adult
N1  - Publication Type: Journal Article; Research Support, Non-U.S. Gov't
UR  - https://doi.org/10.1111/cge.13128
ER  -