Schinzel-Giedion Syndrome Latest Advances

Find the Latest Research About Schinzel-Giedion Syndrome

Last Updated: 06/30/2026

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Found 93 publications

Schinzel-Giedion Syndrome in One of Dizygotic Twins: Confirmation of a De Novo SET Binding Protein 1 (SETBP1) Variant and Classic Multisystem Phenotype.

Schinzel-Giedion Syndrome in One of Dizygotic Twins: Confirmation of a De Novo SET Binding Protein 1 (SETBP1) Variant and Classic Multisystem Phenotype.

Journal: Cureus
Published: May 04, 2026

Single-cell transcriptional consequences of leukaemogenic SETBP1 mutations.

Single-cell transcriptional consequences of leukaemogenic SETBP1 mutations.

Journal: British journal of haematology
Published: October 17, 2025

The spectrum of communication abilities in children with 12 rare neurodevelopmental disorders: a qualitative study with caregivers.

The spectrum of communication abilities in children with 12 rare neurodevelopmental disorders: a qualitative study with caregivers.

Journal: Journal of child psychology and psychiatry, and allied disciplines
Published: August 13, 2025

Prevention of hydrocephalus with a small oligonucleotide.

Prevention of hydrocephalus with a small oligonucleotide.

Journal: Molecular therapy : the journal of the American Society of Gene Therapy
Published: July 29, 2025

Cell-type-specific alternative splicing in the brain and kidney of a Setbp1S858R Schinzel-Giedion syndrome mouse.

Cell-type-specific alternative splicing in the brain and kidney of a Setbp1S858R Schinzel-Giedion syndrome mouse.

Journal: Disease models & mechanisms
Published: April 04, 2025

Schinzel-Giedion syndrome: communication, feeding and motor skills in 16 individuals.

Schinzel-Giedion syndrome: communication, feeding and motor skills in 16 individuals.

Journal: Neurogenetics
Published: January 30, 2025

Case Report: Prolonged survival in Schinzel-Giedion syndrome featuring megaureter and de novo SETBP1 mutation.

Case Report: Prolonged survival in Schinzel-Giedion syndrome featuring megaureter and de novo SETBP1 mutation.

Journal: Frontiers in pediatrics
Published: November 25, 2024

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

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

Journal: American journal of medical genetics. Part A
Published: November 11, 2024

Update on Cancer Screening in Children with Syndromes of Bone Lesions, Hereditary Leiomyomatosis and Renal Cell Carcinoma Syndrome, and Other Rare Syndromes.

Update on Cancer Screening in Children with Syndromes of Bone Lesions, Hereditary Leiomyomatosis and Renal Cell Carcinoma Syndrome, and Other Rare Syndromes.

Journal: Clinical cancer research : an official journal of the American Association for Cancer Research
Published: August 17, 2024

Reciprocal and non-reciprocal effects of clinically relevant SETBP1 protein dosage changes.

Reciprocal and non-reciprocal effects of clinically relevant SETBP1 protein dosage changes.

Journal: Human molecular genetics
Published: April 23, 2024

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

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

Journal: BMC pediatrics
Published: November 01, 2023

The landscape of SETBP1 gene expression and transcription factor activity across human tissues.

The landscape of SETBP1 gene expression and transcription factor activity across human tissues.

Journal: PloS one
Published: October 26, 2023
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Last Updated: 06/30/2026