| 24784881 |
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
Rolland, A,
Bernard, P,
Callier, P,
Antonarakis, SE,
Nef, S,
Faivre, L,
Resh, MD,
Desdoits-Lethimonier, C,
Stévant, I,
Borel, C,
Conne, B,
Thauvin-Robinet, C,
Calvel, P,
Santoni, F,
Kuhne, F,
Wilhelm, D,
Mugneret, F,
Kurosaka, H,
Jaruzelska, J,
Jégou, B,
Vannier, A,
Trainor, PA,
Guipponi, M,
Huet, F,
Mazaud-Guittot, S,
Matevossian, A,
Makrythanasis, P,
Lambert, S,
Zimmermann, C
|
PLoS Genet. |
2014 |
![HHAT G287V [endoplasmic reticulum membrane] icon](/icon/R-ICO-012822.svg){kind=icon}
