Biallelic truncating variants in MAPKAPK5 cause a new developmental disorder involving neurological, cardiac, and facial anomalies combined with synpolydactyly
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D. Horn | P. Lapunzina | Nadja Ehmke | J. Nevado | S. Temtamy | M. Aglan | V. Ruiz-Perez | G. Otaify | A. Rivera-Barahona | E. Fernández-Núñez | F. Boschann | S. Schwartzmann | R. Gómez-Carmona