doi: 10.3897/folmed.64.e60518.
Molecular screening for fragile X syndrome in children with unexplained intellectual disability and/or autistic behaviour
Affiliations
- PMID: 35851904
- DOI: 10.3897/folmed.64.e60518
Item in Clipboard
Molecular screening for fragile X syndrome in children with unexplained intellectual disability and/or autistic behaviour
Folia Med (Plovdiv).
.
Abstract
Fragile X syndrome (FXS, OMIM #300624) is the most common inherited form of intellectual disability and the leading monogenic cause of autism.
Keywords: developmental delay FMR1 screening genetic counseling.
This is an open access article distributed under the terms of the Creative Commons Attribution License (CC BY 4.0), which permits unrestricted use, distribution, and reproduction in any medium, provided the original author and source are credited.
Similar articles
-
Incomplete silencing of full mutation alleles in males with fragile X syndrome is associated with autistic features.Mol Autism. 2019 May 3;10:21. doi: 10.1186/s13229-019-0271-7. eCollection 2019. Mol Autism. 2019. PMID: 31073396 Free PMC article.
-
DNA Methylation at Birth Predicts Intellectual Functioning and Autism Features in Children with Fragile X Syndrome.Int J Mol Sci. 2020 Oct 19;21(20):7735. doi: 10.3390/ijms21207735. Int J Mol Sci. 2020. PMID: 33086711 Free PMC article.
-
Lessons from fragile X regarding neurobiology, autism, and neurodegeneration.J Dev Behav Pediatr. 2006 Feb;27(1):63-74. doi: 10.1097/00004703-200602000-00012. J Dev Behav Pediatr. 2006. PMID: 16511373 Review.
-
Fragile X syndrome: clinical presentation, pathology and treatment.Gac Med Mex. 2020;156(1):60-66. doi: 10.24875/GMM.19005275. Gac Med Mex. 2020. PMID: 32026885 Review. English.
-
Fragile X syndrome: An overview and update of the FMR1 gene.Clin Genet. 2018 Feb;93(2):197-205. doi: 10.1111/cge.13075. Epub 2017 Oct 1. Clin Genet. 2018. PMID: 28617938 Review.
MeSH terms
Substances
LinkOut - more resources
Medical
Research Materials