Mutation of PACS1: the milder end of the spectrum-Reference-Cited by-同舟云学术

Mutation of PACS1: the milder end of the spectrum

Published:2018-10 Issue:4 Volume:27 Page:148-150
ISSN:0962-8827
Container-title:Clinical Dysmorphology
language:en
Short-container-title:

Author:

Martinez-Monseny Antonio,Bolasell Mercè,Arjona Cesar,Martorell Loreto,Yubero Delia,Arsmtrong Judith,Maynou Joan,Fernandez Guerau,del Carmen Salgado Maria,Palau Francesc,Serrano Mercedes

Publisher

Ovid Technologies (Wolters Kluwer Health)

Subject

Genetics(clinical),General Medicine,Pathology and Forensic Medicine,Anatomy,Pediatrics, Perinatology, and Child Health

Reference5 articles.

1. Expanding the phenotype of a recurrent de novo variant in PACS1 causing intellectual disability;Gadzicki;Clin Genet,2015

2. A novel missense mutation affecting the same amino acid as the recurrent PACS1 mutation in Schuurs-Hoeijmakers síndrome;Miyake;Clin Genet,2018

3. Recurrent de novo mutations in PACS1 cause defective cranial-neural-crest migration and define a recognizable intellectual-disability syndrome;Schuurs-Hoeijmakers;Am J Hum Genet,2012

4. Clinical delineation of the PACS1-related syndrome: report on 19 patients;Schuurs-Hoeijmakers;Am J Med Genet A,2016

5. A PACS-1, GGA3 and CK2 complex regulates CI-MPR trafficking;Scott;EMBO J,2006

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1. Estudio de caso en una familia con un niño con síndrome de PACS1 mediante la escala PICCOLO;Revista de Investigación en Logopedia;2024-06-07

2. iPSC-derived models of PACS1 syndrome reveal transcriptional and functional deficits in neuron activity;Nature Communications;2024-01-27

3. Genetic characterization of Schuurs-Hoeijmakers syndrome in a moroccan individual with heterozygote PACS1 mutation;Molecular Biology Reports;2023-09-25

4. Heart Disease Characterization and Myocardial Strain Analysis in Patients with PACS1 Neurodevelopmental Disorder;Journal of Clinical Medicine;2023-06-14

5. Do PACS1 variants impeding adaptor protein binding predispose to syndromic intellectual disability?;American Journal of Medical Genetics Part A;2023-05-04