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Article

SETBP1 mutations in two Thai patients with Schinzel-Giedion syndrome.

Clinical genetics - 1 Apr 2011

Suphapeetiporn K, Srichomthong C, Shotelersuk V

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Source

Identifiers

PMID: 21371013
DOI: 10.1111/j.1399-0004.2010.01552.x

Genes

SETBP1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 8 Sept 2026.

Related research

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Research trail→

Click a neighbor to travelStep 1 · 12 closest

SETBP1 mutations in two Thai patients with Schinzel-Giedion syndrome.PMID 21371013Read ↗

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

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

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

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

The TWIST2 mutation causes Setleis syndrome: a rare clinical case report.Semantic proximity Read ↗

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

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

De novo variant of SETD1A causes neurodevelopmental disorder with dysmorphic facies: A case report.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 ↗

Progressive brain atrophy in Schinzel-Giedion syndrome with a SETBP1 mutation.Semantic proximity Read ↗

Three novel PAX3 mutations observed in patients with Waardenburg syndrome type 1.Semantic proximity Read ↗

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