Article info
PDFNeurogenetics
Original research
De novo variants in SIAH1, encoding an E3 ubiquitin ligase, are associated with developmental delay, hypotonia and dysmorphic features
- Correspondence to Dr Tamar Harel, Hadassah-Hebrew University Medical Center, Jerusalem, Israel; tamarhe{at}hadassah.org.il
Citation
De novo variants in SIAH1, encoding an E3 ubiquitin ligase, are associated with developmental delay, hypotonia and dysmorphic features
Publication history
- Received June 3, 2019
- Revised March 25, 2020
- Accepted April 3, 2020
- First published May 19, 2020.
Online issue publication
February 18, 2021
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© Author(s) (or their employer(s)) 2021. No commercial re-use. See rights and permissions. Published by BMJ.