Heterozygous variants disrupting the interaction of ERF with activated ERK1/2 cause microcephaly, developmental delay, and skeletal anomalies.

Autor: Micale L; Division of Medical Genetics, Fondazione IRCCS-Casa Sollievo della Sofferenza, Viale Cappuccini snc, 71013, San Giovanni Rotondo, Italy. l.micale@operapadrepio.it., Vourlia A; IMBB, FORTH, 71003, Heraklion, Crete, Greece.; Medical School, University of Crete, 71003, Heraklion, Crete, Greece., Fusco C; Division of Medical Genetics, Fondazione IRCCS-Casa Sollievo della Sofferenza, Viale Cappuccini snc, 71013, San Giovanni Rotondo, Italy., Pracella R; Division of Medical Genetics, Fondazione IRCCS-Casa Sollievo della Sofferenza, Viale Cappuccini snc, 71013, San Giovanni Rotondo, Italy., Karagiannis DC; Medical School, University of Crete, 71003, Heraklion, Crete, Greece., Nardella G; Division of Medical Genetics, Fondazione IRCCS-Casa Sollievo della Sofferenza, Viale Cappuccini snc, 71013, San Giovanni Rotondo, Italy., Vaccaro L; Armenise/Harvard Laboratory of Integrative Genomics, Telethon Institute of Genetics and Medicine (TIGEM), Via Campi Flegrei 34, 80078, Pozzuoli, Italy.; Department of Translational Medicine, University of Naples 'Federico II', Naples, Italy., Leone MP; Division of Medical Genetics, Fondazione IRCCS-Casa Sollievo della Sofferenza, Viale Cappuccini snc, 71013, San Giovanni Rotondo, Italy., Gramazio A; Armenise/Harvard Laboratory of Integrative Genomics, Telethon Institute of Genetics and Medicine (TIGEM), Via Campi Flegrei 34, 80078, Pozzuoli, Italy.; Department of Translational Medicine, University of Naples 'Federico II', Naples, Italy., Dentici ML; Rare Diseases and Medical Genetics, IRCCS Ospedale Pediatrico Bambino Gesù, Rome, Italy., Aiello C; Translational Cytogenetics, IRCCS Ospedale Pediatrico Bambino Gesù, Rome, Italy., Novelli A; Translational Cytogenetics, IRCCS Ospedale Pediatrico Bambino Gesù, Rome, Italy., Xenou L; IMBB, FORTH, 71003, Heraklion, Crete, Greece., Sui Y; Department of Genome Sciences, University of Washington School of Medicine, Seattle, WA, USA., Eichler EE; Department of Genome Sciences, University of Washington School of Medicine, Seattle, WA, USA.; Howard Hughes Medical Institute, University of Washington, Seattle, WA, USA., Cacchiarelli D; Armenise/Harvard Laboratory of Integrative Genomics, Telethon Institute of Genetics and Medicine (TIGEM), Via Campi Flegrei 34, 80078, Pozzuoli, Italy.; Department of Translational Medicine, University of Naples 'Federico II', Naples, Italy.; Genomics and Experimental Medicine Program, Scuola Superiore Meridionale, Naples, Italy., Mavrothalassitis G; IMBB, FORTH, 71003, Heraklion, Crete, Greece. mavro@imbb.forth.gr.; Medical School, University of Crete, 71003, Heraklion, Crete, Greece. mavro@imbb.forth.gr., Castori M; Division of Medical Genetics, Fondazione IRCCS-Casa Sollievo della Sofferenza, Viale Cappuccini snc, 71013, San Giovanni Rotondo, Italy.

Publikováno v: European journal of human genetics : EJHG [Eur J Hum Genet] 2024 Dec 12. Date of Electronic Publication: 2024 Dec 12.