Biallelic truncating variants in MAPKAPK5 cause a new developmental disorder involving neurological, cardiac, and facial anomalies combined with synpolydactyly
Horn, Denise; Fernández-Núñez, Elisa; Gomez-Carmona, Ricardo; Rivera-Barahona, Ana; Nevado, Julian; Schwartzmann, Sarina; Ehmke, Nadja; Lapunzina, Pablo; Otaify, Ghada A.; Temtamy, Samia; Aglan, Mona; Boschann, Felix; Ruiz-Perez, Victor L.
2021-01-13