Article
TrkA mediates effect of novel KIDINS220 mutation in human brain ventriculomegaly.
Human molecular genetics - 4 Feb 2021
Jacquemin Valerie, Antoine Mathieu, Duerinckx Sarah, Massart Annick, Desir Julie, Perazzolo Camille, Cassart Marie, Thomas Dominique, Segers Valérie, Lecomte Sophie, Abramowicz Marc, Pirson Isabelle
Abstract excerpt
Congenital hydrocephalus is a potentially devastating, highly heterogeneous condition whose genetic subset remains incompletely known. We here report a consanguineous family where three fetuses presented with brain ventriculomegaly and limb contractures and shared a very rare homozygous variant of KIDINS220, consisting of an in-frame deletion of three amino acids adjacent to the fourth transmembrane domain. Fetal...
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