Prevalence of high-penetrant copy number variants in 7734 low-risk pregnancies
L Sagi-Dain, LS Sheelo, D Brabbing-Goldstein… - American Journal of …, 2023 - Elsevier
BACKGROUND The rate of clinically significant copy number variants in chromosomal
microarray analysis in low-risk pregnancies is approximately 1%. However, these results …
microarray analysis in low-risk pregnancies is approximately 1%. However, these results …
[HTML][HTML] CNV Analysis through Exome Sequencing Reveals a Large Duplication Involved in Sex Reversal, Neurodevelopmental Delay, Epilepsy and Optic Atrophy
C Mehawej, JE Maalouf, M Abdelkhalik, P Mahfouz… - Genes, 2024 - mdpi.com
Background: Duplications on the short arm of chromosome X, including the gene NR0B1,
have been associated with gonadal dysgenesis and with male to female sex reversal …
have been associated with gonadal dysgenesis and with male to female sex reversal …