{Reference Type}: Letter
{Title}: NID1-related autosomal dominant Dandy-Walker malformation with occipital cephalocele in three generations.
{Author}: Dietvorst S;Devriendt K;Lambert J;Boogaerts A;Van Den Bogaert K;Buyse G;Van Calenbergh F;
{Journal}: Eur J Med Genet
{Volume}: 66
{Issue}: 4
{Year}: Apr 2023
{Factor}: 2.465
{DOI}: 10.1016/j.ejmg.2023.104713
{Abstract}: The combination of Dandy-Walker malformation and occipital cephalocele is a rare autosomal dominant condition, known as ADDWOC, and caused by mutations in NID1 or LAMC1. We present a three-generation family with variable manifestations of Dandy-Walker malformation and occipital cephalocele. They all have normal psychomotor development and lack neurological manifestations. Mutation analysis revealed a likely pathogenic missense variant in NID1 (c.3336T > G, p.Asn1112Lys), affecting an amino acid residue crucial in the nidogen/laminin interaction.