Miller Syndrome Latest Advances
Find the Latest Research About Miller Syndrome
Last Updated: 04/28/2026
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Found 302 publications
Expanding the Coffin-Siris syndrome spectrum: genetic, dysmorphic, and endocrine findings in eight cases.
Journal: European journal of pediatrics
Published: January 14, 2026
Beyond Neurodevelopmental Delay: BICRA-Related Coffin-Siris Syndrome 12 with Severe Intestinal Dysmotility and Recurrent Pneumothorax.
Journal: Genes
Published: December 28, 2025
Identification of novel variants in the ARID1B gene causing Coffin-Siris syndrome.
Journal: European journal of pediatrics
Published: October 28, 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
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
Clinical and Genetic Analysis of SMARCC2-Related Diseases in Three Chinese Patients.
Journal: Molecular genetics & genomic medicine
Published: April 30, 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
Last Updated: 04/28/2026