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Article

Long term follow up of two independent patients with Schinzel–Giedion carrying SETBP1 mutations

16 Jul 2015

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Identifiers

PMID: 26188272
DOI: 10.1016/j.ejmg.2015.07.004

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Long term follow up of two independent patients with Schinzel–Giedion carrying SETBP1 mutationsPMID 26188272Read ↗

SETBP1 mutations in two Thai patients with Schinzel-Giedion syndrome.Semantic proximity Read ↗

De novo mutations of SETBP1 cause Schinzel-Giedion syndrome.Semantic proximity Read ↗

[Schinzel-Giedion syndrome: a new mutation in SETBP1].Semantic proximity Read ↗

Schinzel-Giedion syndrome in two Brazilian patients: Report of a novel mutation in SETBP1 and literature review of the clinical features.Semantic proximity Read ↗

Identification of a novel de novo mutation of SETBP1 and new findings of SETBP1 in tumorgenesis.Semantic proximity Read ↗

Overlapping SETBP1 gain-of-function mutations in Schinzel-Giedion syndrome and hematologic malignancies.Semantic proximity Read ↗

A pathogenic variant in the SETBP1 hotspot results in a forme-fruste Schinzel-Giedion syndrome.Semantic proximity Read ↗

Expanding the phenotype of SETD5-related disorder and presenting a novel association with bone fragility.Semantic proximity Read ↗

Clinical refinement of the SETD5-associated phenotype in a child displaying novel features and KBG syndrome-like appearance.Semantic proximity Read ↗

International Expert Opinion on Standard of Care for Patients With Schinzel-Giedion Syndrome: A Modified Delphi Study.Semantic proximity Read ↗

The impact of SETBP1 mutations in neurological diseases and cancer.Semantic proximity Read ↗

Novel SETBP1 D874V adjacent to the degron causes canonical schinzel-giedion syndrome: a case report and review of the literature.Semantic proximity Read ↗

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