A hypomorphic inherited pathogenic variant in DDX3X causes male intellectual disability with additional neurodevelopmental and neurodegenerative features-Reference-Cited by-同舟云学术

A hypomorphic inherited pathogenic variant in DDX3X causes male intellectual disability with additional neurodevelopmental and neurodegenerative features

Published:2018-03-01 Issue:1 Volume:12 Page:
ISSN:1479-7364
Container-title:Human Genomics
language:en
Short-container-title:Hum Genomics

Author:

Kellaris Georgios,Khan Kamal,Baig Shahid M.,Tsai I-Chun,Zamora Francisca Millan,Ruggieri Paul,Natowicz Marvin R.,Katsanis Nicholas^ORCID

Publisher

Springer Science and Business Media LLC

Subject

Drug Discovery,Genetics,Molecular Biology,Molecular Medicine

Link

http://link.springer.com/content/pdf/10.1186/s40246-018-0141-y.pdf

Reference32 articles.

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3. Snijders Blok L, Madsen E, Juusola J, Gilissen C, Baralle D, Reijnders MR, Venselaar H, Helsmoortel C, Cho MT, Hoischen A, et al. Mutations in DDX3X are a common cause of unexplained intellectual disability with gender-specific effects on Wnt signaling. Am J Hum Genet. 2015;97(2):343–52.

4. Harris JC. Intellectual disability: Understanding its development, causes, classification, evaluation, and treatment. New York: Oxford University Press; 2006.

5. Tasse MJ, Luckasson R, Nygren M. AAIDD proposed recommendations for ICD-11 and the condition previously known as mental retardation. Intellect Dev Disabil. 2013;51(2):127–31.

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