Biallelic truncating variants in MAPKAPK5 cause a new developmental disorder involving neurological, cardiac, and facial anomalies combined with synpolydactyly-Reference-Cited by-同舟云学术

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

Published:2021-04 Issue:4 Volume:23 Page:679-688
ISSN:1098-3600
Container-title:Genetics in Medicine
language:en
Short-container-title:Genetics in Medicine

Author:

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.^ORCID

Publisher

Elsevier BV

Subject

Genetics (clinical)

Link

http://www.nature.com/articles/s41436-020-01052-2.pdf

Reference31 articles.

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