@article{callier:hal-01063929,
TITLE = {Loss of function mutation in the palmitoyl-transferase HHAT leads to syndromic 46,XY disorder of sex development by impeding Hedgehog protein palmitoylation and signaling},
AUTHOR = {Callier, Patrick and Calvel, Pierre and Matevossian, Armine and Makrythanasis, Periklis and Bernard, Pascal and Kurosaka, Hiroshi and Vannier, Anne and Thauvin-Robinet, Christel and Borel, Christelle and Mazaud-Guittot, S{\'e}verine and Rolland, Antoine and Desdoits-Lethimonier, Christ{\`e}le and Guipponi, Michel and Zimmermann, C{\'e}line and St{\'e}vant, Isabelle and Kuhne, Fran{\c c}oise and Conne, B{\'e}atrice and Santoni, Federico and Lambert, Sandy and Huet, Frederic and Mugneret, Francine and Jaruzelska, Jadwiga and Faivre, Laurence and Wilhelm, Dagmar and J{\'e}gou, Bernard and Trainor, Paul A. and Resh, Marilyn D. and Antonarakis, Stylianos E. and Nef, Serge},
URL = {https://hal.science/hal-01063929},
JOURNAL = {PLoS Genetics},
PUBLISHER = {Public Library of Science},
VOLUME = {10},
NUMBER = {5},
PAGES = {e1004340},
YEAR = {2014},
DOI = {10.1371/journal.pgen.1004340},
KEYWORDS = {Gonads ; Hedgehog signaling ; Sertoli cells ; Hedgehogs ; Testes ; Embryos ; Palmitoylation ; Sex determination},
HAL_ID = {hal-01063929},
HAL_VERSION = {v1},
}