@article{dubourg:hal-01439363,
TITLE = {Mutational Spectrum in Holoprosencephaly Shows That FGF is a New Major Signaling Pathway},
AUTHOR = {Dubourg, Christ{\`e}le and Carr{\'e},
Wilfrid and Hamdi-Roz{\'e},
Houda and Mouden, Charlotte and Roume, Jo{\"e}lle and Abdelmajid, Benmansour and Amram, Daniel and Baumann, Clarisse and Chassaing, Nicolas and Coubes, Christine and Faivre-Olivier, Laurence and Ginglinger, Emmanuelle and Gonzales, Marie and Levy-Mozziconacci, Annie and Lynch, Sally-Ann and Naudion, Sophie and Pasquier, Laurent and Poidvin, Am{\'e}lie and Prieur, Fabienne and Sarda, Pierre and Toutain, Annick and Dup{\'e},
Val{\'e}rie and Akloul, Linda and Odent, Sylvie and Tayrac, Marie De and David, V{\'e}ronique},
URL = {https://univ-rennes.hal.science/hal-01439363},
JOURNAL = {Human Mutation},
PUBLISHER = {Wiley},
VOLUME = {37},
NUMBER = {12},
PAGES = {1329-1339},
YEAR = {2016},
DOI = {10.1002/humu.23038},
KEYWORDS = {targeted NGS ; brain malformation ; multigenic inheritance ; Holoprosencephaly ; FGF signaling pathway},
PDF = {https://univ-rennes.hal.science/hal-01439363/file/Mutational%20Spectrum%20in%20Holoprosencephaly.pdf},
HAL_ID = {hal-01439363},
HAL_VERSION = {v1},
}