Coffin-Siris Syndrome Latest Advances

Find the Latest Research About Coffin-Siris Syndrome

Last Updated: 04/28/2026

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Found 285 publications

Primary congenital glaucoma in a patient with Coffin-siris syndrome type 1 due to an ARID1B mutation: a novel association.

Primary congenital glaucoma in a patient with Coffin-siris syndrome type 1 due to an ARID1B mutation: a novel association.

Journal: Ophthalmic genetics
Published: March 30, 2026

Double Lacrimal Puncta in a Case of Coffin-Siris Syndrome.

Double Lacrimal Puncta in a Case of Coffin-Siris Syndrome.

Journal: Ophthalmic plastic and reconstructive surgery
Published: February 19, 2026

A novel variant in ARID2 causes Coffin-Siris syndrome 6 with liver cirrhosis.

A novel variant in ARID2 causes Coffin-Siris syndrome 6 with liver cirrhosis.

Journal: Gene
Published: January 13, 2026

Beyond Neurodevelopmental Delay: BICRA-Related Coffin-Siris Syndrome 12 with Severe Intestinal Dysmotility and Recurrent Pneumothorax.

Beyond Neurodevelopmental Delay: BICRA-Related Coffin-Siris Syndrome 12 with Severe Intestinal Dysmotility and Recurrent Pneumothorax.

Journal: Genes
Published: December 28, 2025

Intranasal exosome therapy in Coffin-Siris syndrome: Clinical evaluation of three children.

Intranasal exosome therapy in Coffin-Siris syndrome: Clinical evaluation of three children.

Journal: Surgical neurology international
Published: November 03, 2025

Congenital hypothyroidism with preserved fifth digits in SMARCA4-related Coffin-Siris syndrome: a case report.

Congenital hypothyroidism with preserved fifth digits in SMARCA4-related Coffin-Siris syndrome: a case report.

Journal: AME case reports
Published: October 31, 2025

Identification of novel variants in the ARID1B gene causing Coffin-Siris syndrome.

Identification of novel variants in the ARID1B gene causing Coffin-Siris syndrome.

Journal: European journal of pediatrics
Published: October 28, 2025

Prenatal Diagnosis of 6q Terminal Deletion Associated with Coffin-Siris Syndrome: Phenotypic Delineation and Review.

Prenatal Diagnosis of 6q Terminal Deletion Associated with Coffin-Siris Syndrome: Phenotypic Delineation and Review.

Journal: Genes
Published: October 16, 2025

Expanding the Phenotypic Spectrum Associated With Loss-of-Function SMARCA4 Variants to Eye Developmental Anomalies.

Expanding the Phenotypic Spectrum Associated With Loss-of-Function SMARCA4 Variants to Eye Developmental Anomalies.

Journal: Clinical genetics
Published: October 03, 2025

A Coffin-Siris syndrome-associated mutation modeled in Caenorhabditis elegans affects multiple developmental processes.

A Coffin-Siris syndrome-associated mutation modeled in Caenorhabditis elegans affects multiple developmental processes.

Journal: G3 (Bethesda, Md.)
Published: July 09, 2025

Long-read sequencing identifies a novel de novo inversion in SMARCC2 in a pediatric patient with Coffin-siris syndrome 8: a case report.

Long-read sequencing identifies a novel de novo inversion in SMARCC2 in a pediatric patient with Coffin-siris syndrome 8: a case report.

Journal: BMC medical genomics
Published: July 08, 2025

SMARCB1-related schwannomatosis and other SMARCB1-associated phenotypes: clinical spectrum and molecular pathogenesis.

SMARCB1-related schwannomatosis and other SMARCB1-associated phenotypes: clinical spectrum and molecular pathogenesis.

Journal: Familial cancer
Published: June 04, 2025
Showing 1-12 of 285

Last Updated: 04/28/2026