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. http://orcid.org/0000-0003-0635-3619
This article is maintained by: Elsevier
Article Title: Biallelic truncating variants in MAPKAPK5 cause a new developmental disorder involving neurological, cardiac, and facial anomalies combined with synpolydactyly
Journal Title: Genetics in Medicine
CrossRef DOI link to publisher maintained version: https://doi.org/10.1038/s41436-020-01052-2
Content Type: article
Copyright: © 2021, The Author(s), under exclusive licence to the American College of Medical Genetics and Genomics