Schuurs-Hoeijmakers syndrome in a patient from India
Author:
Affiliation:
1. Biomedical Genomics Unit; National Institute of Biomedical Genomics; Kolkata India
Publisher
Wiley
Subject
Genetics(clinical),Genetics
Link
http://onlinelibrary.wiley.com/wol1/doi/10.1002/ajmg.a.61058/fullpdf
Reference5 articles.
1. Expanding the phenotype of a recurrent de novo variant in PACS1 causing intellectual disability: Letter to the editor;Gadzicki;Clinical Genetics,2015
2. A novel missense mutation affecting the same amino acid as the recurrent PACS1 mutation in Schuurs-Hoeijmakers syndrome: Letter to the editor;Miyake;Clinical Genetics,2018
3. A recurrent de novo PACS2 heterozygous missense variant causes neonatal-onset developmental epileptic encephalopathy, facial dysmorphism, and cerebellar dysgenesis;Olson;The American Journal of Human Genetics,2018
4. Clinical delineation of the PACS1-related syndrome-report on 19 patients;Schuurs-Hoeijmakers;American Journal of Medical Genetics Part A,2016
5. Recurrent De novo mutations in PACS1 cause defective cranial-neural-crest migration and define a recognizable intellectual-disability syndrome;Schuurs-Hoeijmakers;The American Journal of Human Genetics,2012
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1. A rare genetic Schuurs-Hoeijmakers syndrome (PACS1 syndrome);Epilepsy and paroxysmal conditions;2024-06-30
2. Genetic characterization of Schuurs-Hoeijmakers syndrome in a moroccan individual with heterozygote PACS1 mutation;Molecular Biology Reports;2023-09-25
3. Heart Disease Characterization and Myocardial Strain Analysis in Patients with PACS1 Neurodevelopmental Disorder;Journal of Clinical Medicine;2023-06-14
4. First Report of Mexican Patients with <b><i>PACS1</i></b>-Related Neurodevelopmental Disorder and Review of the <b><i>PACS1</i></b>-, <b><i>PACS2</i></b>-, and <b><i>WDR37</i></b>-Related Ophthalmological Manifestations;Molecular Syndromology;2022-12-16
5. A Novel PACS1 Variant Associated With Schuurs-Hoeijmakers Syndrome Phenotype in an Indigenous Descendant in Brazil: A Case Report;Cureus;2022-10-19
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