A human laterality disorder caused by a homozygous deleterious mutation in MMP21
Page 1 of 1
A human laterality disorder caused by a homozygous deleterious mutation in MMP21
Perles Z, Moon S, Ta-Shma A, Yaacov B, Francescatto L, Edvardson S, Rein AJ, Elpeleg O, Katsanis N. A human laterality disorder caused by a homozygous deleterious mutation in MMP21. J Med Genet. 2015 Oct 1. pii: jmedgenet-2015-103336. doi: 10.1136/jmedgenet-2015-103336. [Epub ahead of print]
Similar topics
» Absence of heartbeat in the Xenopus tropicalis mutation muzak is caused by a nonsense mutation in cardiac myosin myh6
» MMP21 is mutated in human heterotaxy and is required for normal left-right asymmetry in vertebrates
» A homozygous founder mutation in TRAPPC6B associates with a neurodevelopmental disorder characterised by microcephaly, epilepsy and autistic features
» A Mutation in a Ganglioside Biosynthetic Enzyme, ST3GAL5, Results in Salt & Pepper Syndrome, a Neurocutaneous Disorder with Altered Glycolipid and Glycoprotein Glycosylation
» Limb body wall complex, amniotic band sequence, or new syndrome caused by mutation in IQ Motif containing K (IQCK)?
» MMP21 is mutated in human heterotaxy and is required for normal left-right asymmetry in vertebrates
» A homozygous founder mutation in TRAPPC6B associates with a neurodevelopmental disorder characterised by microcephaly, epilepsy and autistic features
» A Mutation in a Ganglioside Biosynthetic Enzyme, ST3GAL5, Results in Salt & Pepper Syndrome, a Neurocutaneous Disorder with Altered Glycolipid and Glycoprotein Glycosylation
» Limb body wall complex, amniotic band sequence, or new syndrome caused by mutation in IQ Motif containing K (IQCK)?
Page 1 of 1
Permissions in this forum:
You cannot reply to topics in this forum