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. (2025). Heterozygous variants disrupting the interaction of ERF with activated ERK1/2 cause microcephaly, developmental delay, and skeletal anomalies. Eur J Hum Genet Jun;33(6):718-726. Epub 2024 Dec 12.