A novel CHD7 variant disrupting acceptor splice site in a patient with mild features of CHARGE syndrome: a case report.

Evelina SiavrienėGunda PetraitytėVioleta MikštienėTautvydas RančelisŽivilė MaldžienėAušra MorkūnienėJekaterina ByčkovaAlgirdas UtkusVaidutis KučinskasEglė Preikšaitienė

Published in: BMC medical genetics (2019)

Genetic analysis of novel splice site variant underlines its importance for studying the pathogenic splicing mechanism as well as for confirming a diagnosis.

Keyphrases

case report
solar cells
genome wide
copy number
gene expression
dna methylation