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Article

[Schinzel-Giedion syndrome: a new mutation in SETBP1].

Anales de pediatria (Barcelona, Spain : 2003) - 1 Jan 2015

López-González V, Domingo-Jiménez M R, Burglen L, Ballesta-Martínez M J, Whalen S, Piñero-Fernández J A, Guillén-Navarro E

Abstract excerpt

Schinzel-Giedion syndrome (SGS) (#MIM 269150) is a rare genetic disorder characterized by very marked craniofacial dysmorphism, multiple congenital anomalies and severe intellectual disability. Most affected patients die in early childhood. SETBP1 was identified as the causative gene, but a limited number of patients with molecular confirmation have been reported to date. The case is reported of a 4 and a half...

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Source

Identifiers

PMID: 25082129
DOI: 10.1016/j.anpedi.2014.06.017

Genes

SETBP1

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

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[Schinzel-Giedion syndrome: a new mutation in SETBP1].PMID 25082129Read ↗

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 ↗

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

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

West syndrome in a patient with Schinzel-Giedion syndrome.Semantic proximity Read ↗

Clinical delineation of SETBP1 haploinsufficiency disorder.Semantic proximity Read ↗

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

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

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

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

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

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

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