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Article

Coffin–Siris Syndrome with obesity, macrocephaly, hepatomegaly and hyperinsulinism caused by a mutation in the ARID1B gene

26 Feb 2014

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Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

Identifiers

PMID: 24569609
DOI: 10.1038/ejhg.2014.25

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Coffin–Siris Syndrome with obesity, macrocephaly, hepatomegaly and hyperinsulinism caused by a mutation in the ARID1B genePMID 24569609Read ↗

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

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

ARID2, a milder cause of Coffin-Siris Syndrome? Broadening the phenotype with 17 additional individuals.Semantic proximity Read ↗

Heterozygosity for ARID2 loss-of-function mutations in individuals with a Coffin-Siris syndrome-like phenotype.Semantic proximity Read ↗

The missing link: ARID1B non-truncating variants causing Coffin-Siris syndrome due to protein aggregationSemantic proximity Read ↗

First data from a parent‐reported registry of 81 individuals with Coffin–Siris syndrome: Natural history and management recommendationsSemantic proximity Read ↗

A novel variant in ARID2 causes Coffin-Siris syndrome 6 with liver cirrhosis.Semantic proximity Read ↗

Expanding the Coffin-Siris syndrome spectrum: genetic, dysmorphic, and endocrine findings in eight cases.Semantic proximity Read ↗

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

Identification of de novo mutations for ARID1B haploinsufficiency associated with Coffin-Siris syndrome 1 in three Chinese families via array-CGH and whole exome sequencing.Semantic proximity Read ↗

SMARCE1, a rare cause of Coffin-Siris Syndrome: Clinical description of three additional cases.Semantic proximity Read ↗

Delineation of the adult phenotype of Coffin-Siris syndrome in 35 individuals.Semantic proximity Read ↗

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