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A novel NAA10 variant with impaired acetyltransferase activity causes developmental delay, intellectual disability, and hypertrophic cardiomyopathy

Crossref DOI link: https://doi.org/10.1038/s41431-018-0136-0

Published Online: 2018-05-10

Published Print: 2018-09

Update policy: https://doi.org/10.1007/springer_crossmark_policy

Authors

Støve, Svein Isungset

Blenski, Marina

Stray-Pedersen, Asbjørg

Wierenga, Klaas J. https://orcid.org/0000-0002-6623-3881
Jhangiani, Shalini N.

Akdemir, Zeynep Coban

Crawford, David

McTiernan, Nina

Myklebust, Line M.

Purcarin, Gabriela

McNall-Knapp, Rene

Wadley, Alexandrea

Belmont, John W.

Kim, Jeffrey J.

Lupski, James R

Arnesen, Thomas
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Article History

Received: 31 October 2017

Revised: 24 February 2018

Accepted: 2 March 2018

First Online: 10 May 2018

Compliance with ethical standards

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: Baylor College of Medicine (BCM) and Miraca Holdings Inc. have formed a joint venture with shared ownership and governance of the Baylor Genetics (BG), which performs clinical exome sequencing. JRL serves on the Scientific Advisory Board of BG. JRL has stock ownership in 23andMe, is a paid consultant for Regeneron Pharmaceuticals, has stock options in Lasergen, Inc., and is a coinventor of US and European patents related to molecular diagnostics for inherited neuropathies, eye diseases, and bacterial genomic fingerprinting. All the remaining authors declare that they have no conflict of interest.