Coffin-Siris Syndrome Latest Advances

Find the Latest Research About Coffin-Siris Syndrome

Last Updated: 04/28/2026

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Found 343 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

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

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

Journal: European journal of pediatrics

Published: January 14, 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

ARID1B regulates sphingolipid metabolism and myelin development via STAG2: Mechanistic insights into ARID1B-related coffin-siris syndrome.

ARID1B regulates sphingolipid metabolism and myelin development via STAG2: Mechanistic insights into ARID1B-related coffin-siris syndrome.

Journal: Cellular signalling

Published: November 26, 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

Two cases of Coffin-Siris syndrome type 3 caused by de novoSMARCB1 gene mutations

Two cases of Coffin-Siris syndrome type 3 caused by de novoSMARCB1 gene mutations

Journal: Zhongguo dang dai er ke za zhi = Chinese journal of contemporary pediatrics

Published: July 22, 2025

Showing 1-12 of 343

Last Updated: 04/28/2026