Heterozygous variants disrupting the interaction of ERF with activated ERK1/2 cause microcephaly, developmental delay, and skeletal anomalies.
Micale L, Vourlia A, Fusco C, Pracella R, Karagiannis DC, Nardella G, Vaccaro L, Leone MP, Gramazio A, Dentici ML, Aiello C, Novelli A, Xenou L, Sui Y, Eichler EE, Cacchiarelli D, Mavrothalassitis G, Castori M.
Micale L, et al. Among authors: leone mp.
Eur J Hum Genet. 2024 Dec 12. doi: 10.1038/s41431-024-01721-9. Online ahead of print.
Eur J Hum Genet. 2024.
PMID: 39668184