Trichorhinophalangeal Syndrome Type 1 (TRPS1) Latest Advances
Find the Latest Research About Trichorhinophalangeal Syndrome Type 1 (TRPS1)
Last Updated: 04/28/2026
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Found 185 publications
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
Prevention of hydrocephalus with a small oligonucleotide.
Journal: Molecular therapy : the journal of the American Society of Gene Therapy
Published: July 29, 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
Last Updated: 04/28/2026