ZIC1

Publications

Miller KA et al. Diagnostic value of exome and whole genome sequencing in craniosynostosis. J Med Genet. 2017;54(4):260-68. PMID: 27884935.

Pangalos et al. First applications of a targeted exome sequencing approach in fetuses with ultrasound abnormalities reveals an important fraction of cases with associated gene defects. Peer J. 2016;4.e1955. PMID: 27168972.

Twigg SRF et al. Gain-of-function mutations in ZIC1 are associated with coronal craniosynostosis and learning disability. Am J Hum Genet. 2015;97(3):378-88. PMID: 26340333.

Vandervore LV et al. Mutated zinc finger protein of the cerebellum 1 leads to microcephaly, cortical malformation, callosal agenesis, cerebellar dysplasia, tethered cord and scoliosis. Eur J Med Genet. 2018;61(12):783-89. PMID: 30391508.