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TRAPPC9-related neurodevelopmental disorder: Report of a homozygous deletion in TRAPPC9 due to paternal uniparental isodisomy.
Expanding the phenotype of PIK3C2A related syndrome: Report of two siblings with novel features and genotype.
De novo heterozygous variants in SLC30A7 are a candidate cause for Joubert syndrome.
Expanding the genotypic and phenotypic spectrum in a diverse cohort of 104 individuals with Wiedemann-Steiner syndrome.
Segmental overgrowth and aneurysms due to mosaic PDGFRB p.(Tyr562Cys).
Genotype-phenotype correlation at codon 1740 of SETD2.
Activating variants in PDGFRB result in a spectrum of disorders responsive to imatinib monotherapy.
Quality of life and psychological functioning of pediatric and young adult patients with Gaucher disease, type 1.
A novel truncating variant in ring finger protein 113A (RNF113A) confirms the association of this gene with X-linked trichothiodystrophy.
Novel and lethal case of cardiac involvement in DNM1L mitochondrial encephalopathy.