Heterozygous variants in DCC: Beyond congenital mirror movements.

Sebastian ThamsMominul IslamMarie LindefeldtAnn NordgrenTobias GranbergBianca TesiGisela BarbanyDaniel NilssonMartin Paucar

Published in: Neurology. Genetics (2020)

The presence of chorea expands the clinical spectrum of syndromes associated with variants in DCC. Biallelic pathogenic variants in ERCC6L2 cause bone marrow failure, but a potential association with CMM remains to be studied in larger cohorts.

Keyphrases

copy number
bone marrow
mesenchymal stem cells
early onset
dna repair
oxidative stress
risk assessment
dna damage
genome wide
climate change
autism spectrum disorder