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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.
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- المؤلفون: Callier, Patrick1,2,3; Calvel, Pierre1; Matevossian, Armine4,5,6; Makrythanasis, Periklis1; Bernard, Pascal7; Kurosaka, Hiroshi8; Vannier, Anne1; Thauvin-Robinet, Christel2,3; Borel, Christelle1; Mazaud-Guittot, Séverine9; Rolland, Antoine9; Desdoits-Lethimonier, Christèle9; Guipponi, Michel1; Zimmermann, Céline1; Stévant, Isabelle1; Kuhne, Françoise1; Conne, Béatrice1; Santoni, Federico1; Lambert, Sandy2; Huet, Frederic2,3
- المصدر:
PLoS Genetics. May2014, Vol. 10 Issue 5, p1-12. 12p.
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