Case Reports
doi: 10.1097/MCD.0000000000000237.
Mutation of PACS1: the milder end of the spectrum
Affiliations
- PMID: 30113927
- DOI: 10.1097/MCD.0000000000000237
Item in Clipboard
Case Reports
Mutation of PACS1: the milder end of the spectrum
Clin Dysmorphol.
2018 Oct.
No abstract available
Similar articles
-
Genetic characterization of Schuurs-Hoeijmakers syndrome in a moroccan individual with heterozygote PACS1 mutation.Mol Biol Rep. 2023 Nov;50(11):9121-9128. doi: 10.1007/s11033-023-08803-9. Epub 2023 Sep 25. Mol Biol Rep. 2023. PMID: 37747683
-
Expanding the phenotype of a recurrent de novo variant in PACS1 causing intellectual disability.Clin Genet. 2015 Sep;88(3):300-2. doi: 10.1111/cge.12544. Epub 2014 Dec 18. Clin Genet. 2015. PMID: 25522177 No abstract available.
-
Schuurs-Hoeijmakers syndrome in two patients from Japan.Am J Med Genet A. 2019 Mar;179(3):341-343. doi: 10.1002/ajmg.a.9. Epub 2018 Dec 27. Am J Med Genet A. 2019. PMID: 30588754
-
Molecular Basis of the Schuurs-Hoeijmakers Syndrome: What We Know about the Gene and the PACS-1 Protein and Novel Therapeutic Approaches.Int J Mol Sci. 2022 Aug 25;23(17):9649. doi: 10.3390/ijms23179649. Int J Mol Sci. 2022. PMID: 36077045 Free PMC article. Review.
-
[Molecular mechanism of granule secretion from platelet].Rinsho Ketsueki. 2012 Jul;53(7):664-71. Rinsho Ketsueki. 2012. PMID: 22975767 Review. Japanese. No abstract available.
Cited by
-
iPSC-derived models of PACS1 syndrome reveal transcriptional and functional deficits in neuron activity.Nat Commun. 2024 Jan 27;15(1):827. doi: 10.1038/s41467-024-44989-7. Nat Commun. 2024. PMID: 38280846 Free PMC article.
-
Heart Disease Characterization and Myocardial Strain Analysis in Patients with PACS1 Neurodevelopmental Disorder.J Clin Med. 2023 Jun 14;12(12):4052. doi: 10.3390/jcm12124052. J Clin Med. 2023. PMID: 37373745 Free PMC article.
-
Genetic characterization of Schuurs-Hoeijmakers syndrome in a moroccan individual with heterozygote PACS1 mutation.Mol Biol Rep. 2023 Nov;50(11):9121-9128. doi: 10.1007/s11033-023-08803-9. Epub 2023 Sep 25. Mol Biol Rep. 2023. PMID: 37747683
-
A Novel PACS1 Variant Associated With Schuurs-Hoeijmakers Syndrome Phenotype in an Indigenous Descendant in Brazil: A Case Report.Cureus. 2022 Oct 19;14(10):e30486. doi: 10.7759/cureus.30486. eCollection 2022 Oct. Cureus. 2022. PMID: 36415352 Free PMC article.
-
PACS gene family-related neurological diseases: limited genotypes and diverse phenotypes.World J Pediatr. 2024 Jan;20(1):82-91. doi: 10.1007/s12519-022-00652-z. Epub 2023 Jan 16. World J Pediatr. 2024. PMID: 36645641
Publication types
MeSH terms
Substances
LinkOut - more resources
Full Text Sources
Other Literature Sources
Medical
