Novel PXDN biallelic variants in patients with microphthalmia and anterior segment dysgenesis.
Journal of human genetics
Jumonji domain containing 1C (JMJD1C) sequence variants in seven patients with autism spectrum disorder, intellectual disability and seizures.
European journal of medical genetics
Developmental and epileptic encephalopathy in two siblings with a novel, homozygous missense variant in SCN1B.
American journal of medical genetics. Part A