Miller Syndrome Latest Advances

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

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

Published: April 22, 2026

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.

Journal: Gene

Published: January 13, 2026

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.

Journal: Cellular signalling

Published: November 26, 2025

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.

Journal: Genes

Published: October 16, 2025

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

Journal: Clinical genetics

Published: October 03, 2025

Prenatal Fentanyl Exposure Association With Characteristic Neonatal Anomalies.

Journal: Journal of addiction medicine

Published: September 25, 2025

Prenatal diagnosis of Neu-Laxova syndrome with compound heterozygous variants in PHGDH in a fetus presenting increased nuchal translucency and severe early-onset fetal growth restriction in a dichorionic diamniotic twin pregnancy.

Journal: Taiwanese journal of obstetrics & gynecology

Published: September 10, 2025

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

Miller Syndrome Latest Advances

Find the Latest Research About Miller Syndrome

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

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

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.

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.

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.

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.

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

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

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.

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.

Prenatal Fentanyl Exposure Association With Characteristic Neonatal Anomalies.

Prenatal Fentanyl Exposure Association With Characteristic Neonatal Anomalies.

Prenatal diagnosis of Neu-Laxova syndrome with compound heterozygous variants in PHGDH in a fetus presenting increased nuchal translucency and severe early-onset fetal growth restriction in a dichorionic diamniotic twin pregnancy.

Prenatal diagnosis of Neu-Laxova syndrome with compound heterozygous variants in PHGDH in a fetus presenting increased nuchal translucency and severe early-onset fetal growth restriction in a dichorionic diamniotic twin pregnancy.

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