Trichorhinophalangeal Syndrome Type 1 (TRPS1) Latest Advances

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

Longitudinal Syringomyelia, Cervical Dystonia, and Action Tremor in Trichorhinophalangeal Syndrome Type I - A Case Report.

Journal: Tremor and other hyperkinetic movements (New York, N.Y.)

Published: October 18, 2025

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.

Journal: Journal of child psychology and psychiatry, and allied disciplines

Published: August 13, 2025

Maternal UPD(20) Leading to Mulchandani-Bhoj-Conlin Syndrome: A Rare Neonatal Case With Additional TRPS1 Deletion.

Journal: American journal of medical genetics. Part A

Published: July 27, 2025

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

Pathogenesis and potential therapeutic targets of trichorhinophalangeal syndrome; lessons obtained from animal studies.

Journal: Developmental dynamics : an official publication of the American Association of Anatomists

Published: February 12, 2025

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

Journal: Neurogenetics

Published: January 30, 2025

Trichorhinophalangeal syndrome type 1 (TRPS1) in breast pathology: diagnostic utility and pitfalls.

Journal: Diagnostic pathology

Published: January 06, 2025

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.

Journal: American journal of medical genetics. Part A

Published: November 11, 2024

Tricho-rhino-phalangeal syndrome with TRPS1 gene variation in 3 children

Journal: Zhonghua er ke za zhi = Chinese journal of pediatrics

Published: September 27, 2024

Trichorhinophalangeal Syndrome Type 1 (TRPS1) Latest Advances

Find the Latest Research About Trichorhinophalangeal Syndrome Type 1 (TRPS1)

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.

Longitudinal Syringomyelia, Cervical Dystonia, and Action Tremor in Trichorhinophalangeal Syndrome Type I - A Case Report.

Longitudinal Syringomyelia, Cervical Dystonia, and Action Tremor in Trichorhinophalangeal Syndrome Type I - A Case Report.

Single-cell transcriptional consequences of leukaemogenic SETBP1 mutations.

Single-cell transcriptional consequences of leukaemogenic SETBP1 mutations.

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.

Maternal UPD(20) Leading to Mulchandani-Bhoj-Conlin Syndrome: A Rare Neonatal Case With Additional TRPS1 Deletion.

Maternal UPD(20) Leading to Mulchandani-Bhoj-Conlin Syndrome: A Rare Neonatal Case With Additional TRPS1 Deletion.

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.

Pathogenesis and potential therapeutic targets of trichorhinophalangeal syndrome; lessons obtained from animal studies.

Pathogenesis and potential therapeutic targets of trichorhinophalangeal syndrome; lessons obtained from animal studies.

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

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

Trichorhinophalangeal syndrome type 1 (TRPS1) in breast pathology: diagnostic utility and pitfalls.

Trichorhinophalangeal syndrome type 1 (TRPS1) in breast pathology: diagnostic utility and pitfalls.

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.

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.

Tricho-rhino-phalangeal syndrome with TRPS1 gene variation in 3 children

Tricho-rhino-phalangeal syndrome with TRPS1 gene variation in 3 children