Mutations in ARID2 are associated with intellectual disabilities. (Q30278917)

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20 February 2020

title

Mutations in ARID2 are associated with intellectual disabilities (English)

1 reference

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20 February 2020

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20 February 2020

Anne H O'Donnell-Luria

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20 February 2020

Jane Juusola

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20 February 2020

Linshan Shang

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20 February 2020

Megan T Cho

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20 February 2020

Kyle Retterer

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20 February 2020

Leandra Folk

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20 February 2020

Jennifer Humberson

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20 February 2020

Luis Rohena

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20 February 2020

Sheila Saliganan

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20 February 2020

Alejandro Iglesias

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20 February 2020

Patrik Vitazka

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20 February 2020

Yufeng Shen

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20 February 2020

Wendy K Chung

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20 February 2020

publication date

4 August 2015

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20 February 2020

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20 February 2020

volume

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20 February 2020

issue

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20 February 2020

page(s)

307-314

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Genetic and epigenetic networks in intellectual disabilities.

20 February 2020

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A balanced translocation t(6;14)(q25.3;q13.2) leading to reciprocal fusion transcripts in a patient with intellectual disability and agenesis of corpus callosum

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Haploinsufficiency of ARID1B, a member of the SWI/SNF-a chromatin-remodeling complex, is a frequent cause of intellectual disability

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Corpus callosum abnormalities, intellectual disability, speech impairment, and autism in patients with haploinsufficiency of ARID1B

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Sporadic autism exomes reveal a highly interconnected protein network of de novo mutations

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Mutations in SWI/SNF chromatin remodeling complex gene ARID1B cause Coffin-Siris syndrome

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Mutations affecting components of the SWI/SNF complex cause Coffin-Siris syndrome

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Heterozygous missense mutations in SMARCA2 cause Nicolaides-Baraitser syndrome

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Genotype-phenotype correlation of Coffin-Siris syndrome caused by mutations in SMARCB1, SMARCA4, SMARCE1, and ARID1A.

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ARID proteins come in from the desert

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