The smallest dislocated microduplication of Xq27.1 harboring SOX3 gene associated with XX male phenotype.

Maja OrozAna VičićMarija Požgaj ŠepecHelena KarnašGordana StipančićFeodora Stipoljev

Published in: Journal of pediatric endocrinology & metabolism : JPEM (2022)

genetic rearrangements and DSD. Microarray and genome-wide-sequencing presents important part in routine diagnostics, and in delineation of other sex-determination-pathway genes in sex reversal disorders.

Keyphrases

genome wide
dna methylation
copy number
stem cells
transcription factor
single cell
clinical practice
gene expression
molecularly imprinted
bioinformatics analysis
simultaneous determination