Article

Coffin-Siris syndroom. Clinical description of two cases.

2022-07-05

Abstract excerpt

Coffin-Siris syndrome is a rare disorder which can be difficult to recognize. A broad spectrum of nonspecific clinical features is associated with Coffin-Siris syndrome and expression of these features is diverse. We describe two cases with Coffin-Siris syndrome with mutations in the ARID1A gene, with dissimilar presentation and clinical course.

Topics

Open a Topic to create a Post that cites this publication.

Identifiers and source

Literature Corpus work: 87b53c18-2e39-5a70-8f1f-b0c0b07c5754
DOI: 10.22541/au.165700622.24154069/v1

Open publication

Related research

Semantic proximity does not establish scientific evidence.

Click a neighbor to travelStep 1 · 12 closest

Coffin-Siris syndroom. Clinical description of two cases.DOI 10.22541/au.165700622.24154069/v1Read

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

Clinical features, diagnostic criteria, and management of Coffin-Siris syndrome.Semantic proximity Read

Expanding the clinical spectrum of Coffin-Siris syndrome with anorectal malformations: Case report and review of the literature.Semantic proximity Read

Anorectal Malformations are Part of the Phenotypic Spectrum of Coffin-Siris Syndrome: Case Report and Review of the LiteratureSemantic proximity Read

Prenatal Coffin-Siris Syndrome: Expanding the Phenotypic and Genotypic Spectrum of the Disease.Semantic proximity Read

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

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

Genotype and phenotype in 18 Chinese patients with Coffin-Siris syndrome.Semantic proximity Read

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

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

The Coffin-Siris syndrome: a proposed diagnostic approach and assessment of 15 overlapping cases.Semantic proximity Read

Coffin-Siris Syndrome-1: Report of five cases from Asian populations with truncating mutations in the ARID1B gene.Semantic proximity Read