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TRAPPC9-related neurodevelopmental disorder: Report of a homozygous deletion in TRAPPC9 due to paternal uniparental isodisomy.

  • Read more about 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.

  • Read more about 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.

  • Read more about 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.

  • Read more about 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).

  • Read more about Segmental overgrowth and aneurysms due to mosaic PDGFRB p.(Tyr562Cys).

Genotype-phenotype correlation at codon 1740 of SETD2.

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Activating variants in PDGFRB result in a spectrum of disorders responsive to imatinib monotherapy.

  • Read more about 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.

  • Read more about 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.

  • Read more about 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.

  • Read more about Novel and lethal case of cardiac involvement in DNM1L mitochondrial encephalopathy.

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