TY  - GEN
AU  - Huber,Céline
AU  - Wu,Sulin
AU  - Kim,Ashley S
AU  - Sigaudy,Sabine
AU  - Sarukhanov,Anna
AU  - Serre,Valérie
AU  - Baujat,Genevieve
AU  - Le Quan Sang,Kim-Hanh
AU  - Rimoin,David L
AU  - Cohn,Daniel H
AU  - Munnich,Arnold
AU  - Krakow,Deborah
AU  - Cormier-Daire,Valérie
TI  - WDR34 mutations that cause short-rib polydactyly syndrome type III/severe asphyxiating thoracic dysplasia reveal a role for the NF-κB pathway in cilia
SN  - 1537-6605
PY  - 2013///1230
KW  - Carrier Proteins
KW  - genetics
KW  - Cilia
KW  - Cytoplasmic Dyneins
KW  - Ellis-Van Creveld Syndrome
KW  - Fibroblasts
KW  - Heterozygote
KW  - Homozygote
KW  - Humans
KW  - Infant, Newborn
KW  - Male
KW  - Mutation
KW  - Mutation, Missense
KW  - NF-kappa B
KW  - metabolism
KW  - Ribs
KW  - abnormalities
KW  - Short Rib-Polydactyly Syndrome
KW  - Signal Transduction
N1  - Publication Type: Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't
UR  - https://doi.org/10.1016/j.ajhg.2013.10.007
ER  -