Citations for
1AMCD5D, ECEL1
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 DA, Carlier R, Laroche C, Marcorelles P, Mercier S, Mégarbané A, Odent S, Romero N, Sternberg D, Marty I, Estournet B, Jouk PS, Melki J, Lunardi J.
Hum Mol Genet um Mol Genet. 2013 Feb 7. [Epub ahead of print] 2013
2AMCD5D, ECEL1
Mutations in ECEL1 Cause Distal Arthrogryposis Type 5D.
McMillin MJ, Below JE, Shively KM, Beck AE, Gildersleeve HI, Pinner J, Gogola GR, Hecht JT, Grange DK, Harris DJ, Earl DL, Jagadeesh S, Mehta SG, Robertson SP, Swanson JM, Faustman EM, Mefford HC, Shendure J, Nickerson DA, Bamshad MJ; University of Washington Center for Mendelian Genomics.
Am J Hum Genet 92(1):150-6. doi: 10.1016/j.ajhg.2012.11.014. Epub 2012 Dec 20. 2013