Neural-tube defects such as anencephaly and spina bifida constitute a group of common
congenital malformations caused by complex genetic and environmental factors. We have …

Neural tube defects (NTDs) are very frequent congenital abnormalities in humans. Recently,
we have documented independent association of Vangl1 and Vangl2 gene mutations with …

Kibar Z, Salem S, Bosoi CM, Pauwels E, De Marco P, Merello E, Bassuk AG, Capra V, Gros
P. Contribution of VANGL2 mutations to isolated neural tube defects. Vangl2 was identified …

Neural tube defects (NTDs) are severe congenital malformations caused by failure of the
neural tube to close during neurulation. Their etiology is complex involving both …

Neural tube defects (NTDs) are a heterogeneous group of common severe congenital
anomalies which affect 1–2 infants per 1000 births. Most genetic and/or environmental …

Mammalian Vangl1 and Vangl2 are highly conserved membrane proteins that have evolved
from a single ancestral protein Strabismus/Van Gogh found in Drosophila. Mutations in the …

Neural tube defects (NTDs) represent a common group of severe congenital malformations
of the central nervous system. They result from failure of neural tube closure during early …

Neural tube defects (NTDs) represent a common group of severe congenital malformations
that result from failure of neural tube closure during early development. Their etiology is …

Mutations in the SCN2A gene encoding a voltage-gated sodium channel Nav1. 2 are
associated with epilepsies, intellectual disability, and autism. SCN2A gain-of-function …

Objective: Small nerve fiber neuropathy (SFN) often occurs without apparent cause, but no
systematic genetic studies have been performed in patients with idiopathic SFN (I‐SFN). We …