Miller Syndrome Latest Advances
Find the Latest Research About Miller Syndrome
Last Updated: 09/26/2026
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Found 312 publications
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
Analysis of Fetal Short Femur: Characteristics That Influence Prenatal Diagnosis.
Journal: Journal of clinical ultrasound : JCU
Published: March 14, 2026
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
Impaired IFN-γ-mediated innate and adaptive immunity in Coffin-Siris syndrome type 2: immunological insights from a patient with a recurrent ARID1A mutation.
Journal: Frontiers in immunology
Published: February 04, 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
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
Expanding Spectrum of FIG4-Related Neurological Disorders of Lysosomal Homeostasis: Case Report and Overview of the Potential Genotype-Phenotype Correlations.
Journal: Clinical genetics
Published: December 06, 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
Last Updated: 09/26/2026