Establishing the phenotypic spectrum of ZTTK syndrome by analysis of 52 individuals with variants in SON-Reference-Cited by-同舟云学术

Establishing the phenotypic spectrum of ZTTK syndrome by analysis of 52 individuals with variants in SON

Published:2021-09-15 Issue: Volume: Page:
ISSN:1018-4813
Container-title:European Journal of Human Genetics
language:en
Short-container-title:Eur J Hum Genet

Author:

Dingemans Alexander J. M.,Truijen Kim M. G.,Kim Jung-Hyun^ORCID,Alaçam Zahide,Faivre Laurence,Collins Kathleen M.,Gerkes Erica H.,van Haelst Mieke,van de Laar Ingrid M. B. H.,Lindstrom Kristin,Nizon Mathilde^ORCID,Pauling James,Heropolitańska-Pliszka Edyta,Plomp Astrid S.,Racine Caroline^ORCID,Sachdev Rani,Sinnema Margje,Skranes Jon,Veenstra-Knol Hermine E.,Verberne Eline A.,Vulto-van Silfhout Anneke T.,Wilsterman Marlon E. F.,Ahn Eun-Young Erin^ORCID,de Vries Bert B. A.^ORCID,Vissers Lisenka E. L. M.^ORCID

Publisher

Springer Science and Business Media LLC

Subject

Genetics (clinical),Genetics

Link

https://www.nature.com/articles/s41431-021-00960-4.pdf

Reference26 articles.

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5. Tokita MJ, Braxton AA, Shao Y, Lewis AM, Vincent M, Küry S, et al. De novo truncating variants in SON cause intellectual disability, congenital malformations, and failure to thrive. Am J Hum Genet. 2016;99:720–7.

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