DHDDS and NUS1: A Converging Pathway and Common Phenotype.

Laura J WilliamsSophie WallerJessica QiuEmily InnesNoha ElserafyPeter ProcopisHugo SampaioNeil MahantMichel C TchanShekeeb S MohammadHugo Morales-Briceño Victor S C Fung

Published in: Movement disorders clinical practice (2023)

Recognition of their shared phenotype may expedite diagnosis through chromosomal microarray and by including DHDDS/NUS1 in movement disorder gene panels.

Keyphrases

copy number
genome wide
genome wide identification
gene expression
transcription factor