Expanding the clinical spectrum associated with the PACS1 p. Arg203Trp mutational hot‐spot: Two additional Italian patients
Author:
Affiliation:
1. Medical Genetics University of Siena Siena Italy
2. Med Biotech Hub and Competence Center, Department of Medical Biotechnologies University of Siena Siena Italy
3. Genetica Medica Azienda Ospedaliera Universitaria Senese Siena Italy
Publisher
Wiley
Subject
Genetics (clinical),Genetics
Link
https://onlinelibrary.wiley.com/doi/pdf/10.1002/ajmg.a.62984
Reference11 articles.
1. Schuurs-Hoeijmakers syndrome in a patient from India
2. Schuurs‐Hoeijmakers syndrome in two patients from Japan
3. A Novel Multi-Exon Deletion of PACS1 in a Three-Generation Pedigree: Supplements to PACS1 Neurodevelopmental Disorder Spectrum
4. A novel missense mutation affecting the same amino acid as the recurrent PACS1 mutation in Schuurs‐Hoeijmakers syndrome
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1. iPSC-derived models of PACS1 syndrome reveal transcriptional and functional deficits in neuron activity;Nature Communications;2024-01-27
2. Do PACS1 variants impeding adaptor protein binding predispose to syndromic intellectual disability?;American Journal of Medical Genetics Part A;2023-05-04
3. iPSC-derived models of PACS1 syndrome reveal transcriptional and functional deficits in neuron activity;2022-05-13
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