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Article

ARID1B mutations are the major genetic cause of corpus callosum anomalies in patients with intellectual disability.

Brain : a journal of neurology - 1 Nov 2016

Mignot Cyril, Moutard Marie-Laure, Rastetter Agnès, Boutaud Lucile, Heide Solveig, Billette Thierry, Doummar Diane, Garel Catherine, Afenjar Alexandra, Jacquette Aurélia, Lacombe Didier, Verloes Alain, Bole-Feysot Christine, Nitschké Patrick, Masson Cécile, Faudet Anne, Lesne Fabien, Bienvenu Thierry, Alby Caroline, Attié-Bitach Tania, Depienne Christel, Nava Caroline, Héron Delphine

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Identifiers

PMID: 27474218
DOI: 10.1093/brain/aww181

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ARID1B mutations are the major genetic cause of corpus callosum anomalies in patients with intellectual disability.PMID 27474218Read ↗

Reply: ARID1B mutations are the major genetic cause of corpus callosum anomalies in patients with intellectual disability.Semantic proximity Read ↗

The HHID syndrome of hypertrichosis, hyperkeratosis, abnormal corpus callosum, intellectual disability, and minor anomalies is caused by mutations in ARID1B.Semantic proximity Read ↗

Corpus callosum abnormalities, intellectual disability, speech impairment, and autism in patients with haploinsufficiency of <i>ARID1B</i>Semantic proximity Read ↗

A novel familial autosomal dominant mutation in ARID1B causing neurodevelopmental delays, short stature, and dysmorphic features.Semantic proximity Read ↗

<i>ARID1B</i>-mediated disorders: Mutations and possible mechanismsSemantic proximity Read ↗

Novel candidate genes and variants underlying autosomal recessive neurodevelopmental disorders with intellectual disability.Semantic proximity Read ↗

Exome sequencing identifies recessive CDK5RAP2 variants in patients with isolated agenesis of corpus callosumSemantic proximity Read ↗

ARID1B controls transcriptional programs of axon projection in the human corpus callosumSemantic proximity Read ↗

Genetic heterogeneity in corpus callosum agenesisSemantic proximity Read ↗

Identification of novel variants in the ARID1B gene causing Coffin-Siris syndrome.Semantic proximity Read ↗

ARID1B controls transcriptional programs of axon projection in an organoid model of the human corpus callosumSemantic proximity Read ↗

A boy with Coffin-Siris syndrome with a novel frameshift mutation in ARID1B.Semantic proximity Read ↗

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