Currarino syndrome: a comprehensive genetic review of a rare congenital disorder.

Gabriel C DworschakHeiko M ReutterMichael Ludwig

Published in: Orphanet journal of rare diseases (2021)

Aside from MNX1, other genes or regulatory regions may contribute to CS and we discuss several cytogenetic studies and whole-exome sequencing data that have implicated further loci/genes in its etiology.

Keyphrases

genome wide
dna methylation
copy number
genome wide identification
bioinformatics analysis
transcription factor
electronic health record
case report
gene expression
big data
case control
genome wide analysis
artificial intelligence
genome wide association