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
A novel truncating variant in ring finger protein 113A (RNF113A) confirms the association of this gene with X-linked trichothiodystrophy.
American journal of medical genetics. Part A