Biallelic truncating variants in MAPKAPK5 cause a new developmental disorder involving neurological, cardiac, and facial anomalies combined with synpolydactyly

Genetics in Medicine, Published online: 13 January 2021; doi:10.1038/s41436-020-01052-2Biallelic truncating variants in MAPKAPK5 cause a new developmental disorder involving neurological, cardiac, and facial anomalies combined with synpolydactyly

Source: Genetics in Medicine - January 13, 2021 Category: Genetics & Stem Cells Authors: Denise Horn Elisa Fern ández-Núñez Ricardo Gomez-Carmona Ana Rivera-Barahona Julian Nevado Sarina Schwartzmann Nadja Ehmke Pablo Lapunzina Ghada A. Otaify Samia Temtamy Mona Aglan Felix Boschann Victor L. Ruiz-Perez Source Type: research