The neuronal endopeptidase ECEL1 is associated with a distinct form of recessive distal arthrogryposis

Dieterich K., Quijano-Roy S., Monnier N., Zhou J., Fauré J., Smirnow D.A., Carlier R., Laroche C., Marcorelles P., Mercier S., Megarbane A., Odent S., Romero N., Sternberg D., Marty I., Estournet B., Jouk P.S., Melki J., and Lunardi J. 

Hum Mol Genet. (2013) 22:1483-92.