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Last Updated: 10/31/2025
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Found 199 publications
Pitt-Hopkins syndrome: A case report of mild impairments and musical talents.
Journal: Translational science of rare diseases
Published: August 18, 2025
Characterization of astrocyte density in the Pitt-Hopkins Syndrome mouse model of ASD.
Journal: bioRxiv : the preprint server for biology
Published: July 17, 2025
High prevalence of eosinophilic esophagitis and hypogammaglobulinemia in patients with Pitt-Hopkins syndrome.
Journal: Annals of allergy, asthma & immunology : official publication of the American College of Allergy, Asthma, & Immunology
Published: July 01, 2025
An attempt to explain what intrinsically disordered TCF4 does in its spare time when PTHS-related mutations prevent it from doing its job.
Journal: Cell communication and signaling : CCS
Published: April 22, 2025
Repurposing nicardipine leads to improved development in a young patient with Pitt-Hopkins syndrome.
Repurposing nicardipine leads to improved development in a young patient with Pitt-Hopkins syndrome.
Journal: Frontiers in pharmacology
Published: March 11, 2025
Functionalisation of de-novo synonymous variant in TCF4 associated with Pitt-Hopkins syndrome: a case report and review of literature.
Journal: Clinical dysmorphology
Published: February 13, 2025
The molecular properties of the bHLH TCF4 protein as an intrinsically disordered hub transcription factor.
Journal: Cell communication and signaling : CCS
Published: January 27, 2025
Clinical and genetic characteristics of children with Pitt-Hopkins syndrome caused by TCF4 gene variants
Journal: Zhonghua yi xue za zhi
Published: November 13, 2024
Tcf4 Deficiency causes recurrent seizures in mice.
Journal: Progress in neurobiology
Published: November 06, 2024
A novel human organoid model system reveals requirement of TCF4 for oligodendroglial differentiation.
Journal: Life science alliance
Published: October 20, 2024
Gene network analysis identifies dysregulated pathways in an autism spectrum disorder caused by mutations in Transcription Factor 4.
Journal: Scientific reports
Published: October 15, 2024
Broadening the PHIP-Associated Neurodevelopmental Phenotype.
Journal: Children (Basel, Switzerland)
Published: October 14, 2024
Last Updated: 10/31/2025