| Bibliographic Citation
| - Callier Patrick, Calvel Pierre, Matevossian Armine, Makrythanasis Periklis, Bernard Pascal, Kurosaka Hiroshi, Vannier Anne, Thauvin-Robinet Christel, Borel Christelle, Mazaud-Guittot Séverine, Rolland Antoine, Desdoits-Lethimonier Christèle, Guipponi Michel, Zimmermann Céline, Stévant Isabelle, Kuhne Françoise, Conne Béatrice, Santoni Federico, Lambert Sandy, Huet Frederic, Mugneret Francine, Jaruzelska Jadwiga, Faivre Laurence, Wilhelm Dagmar, Jégou Bernard, Trainor Paul A., Resh Marilyn D., Antonarakis Stylianos E., Nef Serge. 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. PLoS Genetics, Public Library of Science, 2014, 10 (5), pp.e1004340. ⟨10.1371/journal.pgen.1004340⟩
- CallierPatrick, CalvelPierre, MatevossianArmine, MakrythanasisPeriklis, BernardPascal, KurosakaHiroshi, VannierAnne, Thauvin-RobinetChristel, BorelChristelle, Mazaud-GuittotSéverine, RollandAntoine, Desdoits-LethimonierChristèle, GuipponiMichel, ZimmermannCéline, StévantIsabelle, KuhneFrançoise, ConneBéatrice, SantoniFederico, LambertSandy, HuetFrederic, MugneretFrancine, JaruzelskaJadwiga, FaivreLaurence, WilhelmDagmar, JégouBernard, TrainorPaul A., ReshMarilyn D., AntonarakisStylianos E., NefSerge . 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 . PLoS Genetics, 2014, 10 (5), pp.e1004340 . ⟨10.1371/journal.pgen.1004340⟩
- Callier Patrick, Calvel Pierre, Matevossian Armine, Makrythanasis Periklis, Bernard Pascal, Kurosaka Hiroshi, Vannier Anne, Thauvin-Robinet Christel, Borel Christelle, Mazaud-Guittot Séverine, Rolland Antoine, Desdoits-Lethimonier Christèle, Guipponi Michel, Zimmermann Céline, Stévant Isabelle, Kuhne Françoise, Conne Béatrice, Santoni Federico, Lambert Sandy, Huet Frederic, Mugneret Francine, Jaruzelska Jadwiga, Faivre Laurence, Wilhelm Dagmar, Jégou Bernard, Trainor Paul A., Resh Marilyn D., Antonarakis Stylianos E., Nef Serge . 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 . PLoS Genetics, 2014, 10 (5), pp.e1004340 . ⟨10.1371/journal.pgen.1004340⟩
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