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- Title
Editorial for the Fragile X Syndrome Genetics Special Issue: May 2023.
- Authors
Godler, David E.; Brown, William T.
- Abstract
They focus on somatic mosaicism, dual diagnoses, deletions and sequence variations to I FMR1 i identified by genomic testing that may not be identified by standard-of-care testing for FXS. Focusing on the physiological issues of FXS, Lewis et al. [[4]] present two adult males with FXS displaying the aortic aneurism characteristic of Marfan syndrome. The authors conclude that while it is not uncommon for individuals with FXS to be affected with connective tissue disorders including mitral valve prolapse, this is the first report of aortic aneurisms in FXS. Fragile X syndrome (FXS) is the leading single-gene cause of inherited intellectual disability and autism.
- Subjects
FRAGILE X syndrome; GENETICS; CHORIONIC villus sampling; MOLECULAR genetics
- Publication
Genes, 2023, Vol 14, Issue 6, p1148
- ISSN
2073-4425
- Publication type
Editorial
- DOI
10.3390/genes14061148