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Article

West syndrome in a patient with Schinzel-Giedion syndrome.

Journal of child neurology - 1 Jun 2015

Miyake Fuyu, Kuroda Yukiko, Naruto Takuya, Ohashi Ikuko, Takano Kyoko, Kurosawa Kenji

Abstract excerpt

Schinzel-Giedion syndrome is a rare recognizable malformation syndrome defined by characteristic facial features, profound developmental delay, severe growth failure, and multiple congenital anomalies. The causative gene of Schinzel-Giedion syndrome, SETBP1, has been identified, but limited cases have been confirmed by molecular analysis. We present a 9-month-old girl affected by West syndrome with...

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Source

Identifiers

PMID: 25028416
DOI: 10.1177/0883073814541468

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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Research trail→

Click a neighbor to travelStep 1 · 12 closest

West syndrome in a patient with Schinzel-Giedion syndrome.PMID 25028416Read ↗

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

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

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

Schinzel-Giedion syndrome.Semantic proximity Read ↗

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

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

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

Schinzel-Giedion syndrome: further delineation of the phenotype.Semantic proximity Read ↗

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