Dynamin 2 homozygous mutation in humans with a lethal congenital syndrome
Page 1 of 1
Dynamin 2 homozygous mutation in humans with a lethal congenital syndrome
Koutsopoulos OS, Kretz C, Weller CM, Roux A, Mojzisova H, Böhm J, Koch C, Toussaint A, Heckel E, Stemkens D, Ter Horst SA, Thibault C, Koch M, Mehdi SQ, Bijlsma EK, Mandel JL, Vermot J, Laporte J. Dynamin 2 homozygous mutation in humans with a lethal congenital syndrome. Eur J Hum Genet. 2012 Oct 24. doi: 10.1038/ejhg.2012.226. [Epub ahead of print]
Similar topics
» ZBTB42 mutation defines a novel lethal congenital contracture syndrome (LCCS6)
» A zebrafish model of lethal congenital contracture syndrome 1 reveals Gle1 function in spinal neural precursor survival and motor axon arborization
» Haploinsufficiency of TAB2 causes congenital heart defects in humans
» Congenital lethal motor neuron disease with a novel defect in ribosome biogenesis
» Compound heterozygous loss-of-function mutations in KIF20A are associated with a novel lethal congenital cardiomyopathy in two siblings
» A zebrafish model of lethal congenital contracture syndrome 1 reveals Gle1 function in spinal neural precursor survival and motor axon arborization
» Haploinsufficiency of TAB2 causes congenital heart defects in humans
» Congenital lethal motor neuron disease with a novel defect in ribosome biogenesis
» Compound heterozygous loss-of-function mutations in KIF20A are associated with a novel lethal congenital cardiomyopathy in two siblings
Page 1 of 1
Permissions in this forum:
You cannot reply to topics in this forum