Pitt-Hopkins Syndrome Latest Advances
Find the Latest Research About Pitt-Hopkins Syndrome
Last Updated: 09/26/2026
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Found 213 publications
Human Brain Organoid-Enabling Discoveries Reach the Clinic: A Translational Inflection Point.
Journal: Stem cells and development
Published: August 22, 2026
Pitt-Hopkins syndrome (PTHS)- a case report from Pakistan.
Journal: JPMA. The Journal of the Pakistan Medical Association
Published: July 14, 2026
Genetic Analysis of Pitt-Hopkins Syndrome Caused by a Novel Splicing Variant (c.1146+3A>T) in the TCF4 Gene.
Journal: Molecular genetics & genomic medicine
Published: March 02, 2026
Increasing MeCP2 protein in Pitt-Hopkins syndrome model (Tcf4+/-) mice does not affect abnormal myelination but induces the generation of astrocytes.
Journal: Molecular and cellular neurosciences
Published: February 03, 2026
Juvenile reinstatement of TCF4 in Pitt-Hopkins syndrome model mice reveals a critical window for genetic intervention.
Journal: bioRxiv : the preprint server for biology
Published: January 09, 2026
Interventions targeting challenges experienced by individuals with Pitt Hopkins syndrome: a scoping review.
Journal: Orphanet journal of rare diseases
Published: December 25, 2025
A Case Report of Pitt-Hopkins Syndrome With Seasonal Exacerbation of Respiratory Dysregulation.
Journal: Pediatrics international : official journal of the Japan Pediatric Society
Published: November 22, 2025
Selective enrichment of TCF4 in GABAergic neurons during postnatal primate development.
Journal: Frontiers in neuroanatomy
Published: October 07, 2025
Intrinsically disordered bHLH family member TCF4 drives phase separation in a DNA-dependent manner.
Journal: Archives of biochemistry and biophysics
Published: September 26, 2025
Gastric volvulus and wandering spleen in Pitt-Hopkins syndrome: first paediatric case report.
Journal: Frontiers in pediatrics
Published: September 15, 2025
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
Last Updated: 09/26/2026