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Last Updated: 01/07/2026
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Found 332 publications
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
A Novel Variant of ARID1B-Related Coffin-Siris Syndrome in a Saudi Girl: A Case Report.
Journal: Cureus
Published: July 22, 2025
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
Case report: Surgical disconnection for medically refractory epilepsy in ARID1B-related Coffin-Siris syndrome.
Journal: Epilepsy & behavior reports
Published: May 13, 2025
Optic nerve hypoplasia/dysplasia in Coffin-Siris syndrome: a case series.
Journal: Journal of AAPOS : the official publication of the American Association for Pediatric Ophthalmology and Strabismus
Published: April 06, 2025
ARID1A gene variants and fetal hydrocephalus: First evidence of mRNA decay escape.
Journal: European journal of medical genetics
Published: April 01, 2025
Case Report: Observation of early-onset high myopia with fundus tessellation changes in Coffin-Siris syndrome 9 (CSS9) and literature review.
Journal: Frontiers in pediatrics
Published: April 01, 2025
Inflammatory arthritis as an atypical manifestation of Coffin-Siris syndrome linked to a novel ARID1B variant.
Journal: Clinical and experimental rheumatology
Published: February 03, 2025
Last Updated: 01/07/2026