Coffin-Siris Syndrome Latest Advances

Find the Latest Research About Coffin-Siris Syndrome

Last Updated: 06/30/2026

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Found 350 publications

Clinical characteristics and genetic analysis of a child with Coffin-Siris syndrome type 8 due to an intronic variant of SMARCC2 gene

Clinical characteristics and genetic analysis of a child with Coffin-Siris syndrome type 8 due to an intronic variant of SMARCC2 gene

Journal: Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics
Published: May 06, 2026

A case of Berry syndrome associated with SOX11-related Coffin-Siris syndrome type 9

A case of Berry syndrome associated with SOX11-related Coffin-Siris syndrome type 9

Journal: Zhongguo dang dai er ke za zhi = Chinese journal of contemporary pediatrics
Published: April 22, 2026

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 multi-omics approach to characterize a deep intronic ARID1A deletion in Coffin-Siris Syndrome.

A multi-omics approach to characterize a deep intronic ARID1A deletion in Coffin-Siris Syndrome.

Journal: European journal of medical genetics
Published: February 06, 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

A de novo SOX11 mutation causing hypogonadotropic hypogonadism: a case report and literature review.

A de novo SOX11 mutation causing hypogonadotropic hypogonadism: a case report and literature review.

Journal: BMC pediatrics
Published: December 18, 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

Multimodal imaging reveals resilient memory networks in carriers of pathogenic ARID1B variants.

Multimodal imaging reveals resilient memory networks in carriers of pathogenic ARID1B variants.

Journal: Translational psychiatry
Published: November 04, 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
Showing 1-12 of 350

Last Updated: 06/30/2026