Associated Papers
PACS1 syndrome variant alters proteomic landscape of developing cortical organoids.
Gomez-Maqueo X et al.
Biorxiv : the Preprint Server for Biology, 2025
A case report of retinal dystrophy in patients with PACS1 syndrome.
Brown JE et al.
Ophthalmic Genetics, 2024
iPSC-derived models of PACS1 syndrome reveal transcriptional and functional deficits in neuron activity.
Rylaarsdam L et al.
Nature Communications, 2024
PACS gene family-related neurological diseases: limited genotypes and diverse phenotypes.
Zhang H et al.
World Journal of Pediatrics : Wjp, 2024
Genetic characterization of Schuurs-Hoeijmakers syndrome in a moroccan individual with heterozygote PACS1 mutation.
Abbassi M et al.
Molecular Biology Reports, 2023
First Report of Mexican Patients with PACS1-Related Neurodevelopmental Disorder and Review of the PACS1-, PACS2-, and WDR37-Related Ophthalmological Manifestations.
Corona-Rivera JR et al.
Molecular Syndromology, 2023
Expanding the clinical spectrum associated with the PACS1 p.Arg203Trp mutational hot-spot: Two additional Italian patients.
Bruno LP et al.
American Journal of Medical Genetics. Part A, 2023
A Novel PACS1 Variant Associated With Schuurs-Hoeijmakers Syndrome Phenotype in an Indigenous Descendant in Brazil: A Case Report.
Lucena PH et al.
Cureus, 2022
Molecular Basis of the Schuurs-Hoeijmakers Syndrome: What We Know about the Gene and the PACS-1 Protein and Novel Therapeutic Approaches.
Arnedo M et al.
International Journal of Molecular Sciences, 2022
PACS1-Neurodevelopmental disorder: clinical features and trial readiness.
Van Nuland A et al.
Orphanet Journal of Rare Diseases, 2021
Coloboma may be a shared feature in a spectrum of disorders caused by mutations in the WDR37-PACS1-PACS2 axis.
Sakaguchi Y et al.
American Journal of Medical Genetics. Part A, 2021
Prenatal and postnatal diagnosis of Schuurs-Hoeijmakers syndrome: Case series and review of the literature.
Seto MT et al.
American Journal of Medical Genetics. Part A, 2021
A Novel Multi-Exon Deletion of PACS1 in a Three-Generation Pedigree: Supplements to PACS1 Neurodevelopmental Disorder Spectrum.
Liu Y et al.
Frontiers in Genetics, 2021
Schuurs-Hoeijmakers syndrome in a patient from India.
Dutta AK
American Journal of Medical Genetics. Part A, 2019
A novel missense mutation affecting the same amino acid as the recurrent PACS1 mutation in Schuurs-Hoeijmakers syndrome.
Miyake N et al.
Clinical Genetics, 2018