De novo ARHGEF9 missense variants associated with neurodevelopmental disorder in females: expanding the genotypic and phenotypic spectrum of ARHGEF9 disease in females-Reference-Cited by-同舟云学术

De novo ARHGEF9 missense variants associated with neurodevelopmental disorder in females: expanding the genotypic and phenotypic spectrum of ARHGEF9 disease in females

Published:2020-09-17 Issue:1 Volume:22 Page:87-94
ISSN:1364-6745
Container-title:neurogenetics
language:en
Short-container-title:Neurogenetics

Author:

Scala Marcello^ORCID,Zonneveld-Huijssoon Evelien,Brienza Marianna,Mecarelli Oriano,van der Hout Annemarie H.,Zambrelli Elena,Turner Katherine,Zara Federico,Peron Angela,Vignoli Aglaia,Striano Pasquale

Publisher

Springer Science and Business Media LLC

Subject

Cellular and Molecular Neuroscience,Genetics(clinical),Genetics

Link

https://link.springer.com/content/pdf/10.1007/s10048-020-00622-5.pdf

Reference14 articles.

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4. Striano P, Zara F (2017) ARHGEF9 mutations cause a specific recognizable X-linked intellectual disability syndrome. Neurol Genet 3(3):e159. https://doi.org/10.1212/NXG.0000000000000159

5. Chiou TT, Long P, Schumann-Gillett A, Kanamarlapudi V, Haas SA, Harvey K, O'Mara ML, De Blas AL, Kalscheuer VM, Harvey RJ (2019) Mutation p.R356Q in the collybistin phosphoinositide binding site is associated with mild intellectual disability. Front Mol Neurosci 12:–60. https://doi.org/10.3389/fnmol.2019.00060

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