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Last Updated: 01/07/2026

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Found 266 publications

RNA Polymerase I Dysfunction Underlying Craniofacial Syndromes: Integrated Genetic Analysis Reveals Parallels to 22q11.2 Deletion Syndrome.

RNA Polymerase I Dysfunction Underlying Craniofacial Syndromes: Integrated Genetic Analysis Reveals Parallels to 22q11.2 Deletion Syndrome.

Journal: Genes
Published: July 22, 2025

PTBP3 Associated With 9q32 Locus Is a Candidate Gene for Nager Syndrome.

PTBP3 Associated With 9q32 Locus Is a Candidate Gene for Nager Syndrome.

Journal: Birth defects research
Published: May 29, 2025

Facial Bone Defects Associated with Lateral Facial Clefts Tessier Type 6, 7 and 8 in Syndromic Neurocristopathies: A Detailed Micro-CT Analysis on Historical Museum Specimens.

Facial Bone Defects Associated with Lateral Facial Clefts Tessier Type 6, 7 and 8 in Syndromic Neurocristopathies: A Detailed Micro-CT Analysis on Historical Museum Specimens.

Journal: Biology
Published: May 28, 2025

The Phenotypic Spectrum of Miller Syndrome: Insight From a French Cohort.

The Phenotypic Spectrum of Miller Syndrome: Insight From a French Cohort.

Journal: Clinical genetics
Published: April 25, 2025

The Development of a European Registry for Facial Dysostosis Syndromes: A Delphi-Guided Approach.

The Development of a European Registry for Facial Dysostosis Syndromes: A Delphi-Guided Approach.

Journal: The Journal of craniofacial surgery
Published: March 25, 2025

Unveiling the Phenotypic Spectrum of Miller Syndrome: A Systematic Review.

Unveiling the Phenotypic Spectrum of Miller Syndrome: A Systematic Review.

Journal: The Journal of craniofacial surgery
Published: March 03, 2025

A New Case of Nager Syndrome as a Rare Cause of Acrofacial Dysostosis.

A New Case of Nager Syndrome as a Rare Cause of Acrofacial Dysostosis.

Journal: Molecular syndromology
Published: December 05, 2024

Deletion of sf3b4 causes splicing defects and gene dysregulation that disrupt craniofacial development and survival.

Deletion of sf3b4 causes splicing defects and gene dysregulation that disrupt craniofacial development and survival.

Journal: Disease models & mechanisms
Published: October 23, 2024

Management and Outcomes of Neonates with Treacher Collins and Nager Syndromes.

Management and Outcomes of Neonates with Treacher Collins and Nager Syndromes.

Journal: The Journal of pediatrics
Published: October 04, 2024

A mild skeletal phenotype with overlapping features of Miller syndrome and functional characterisation of two new variants of human dihydroorotate dehydrogenase.

A mild skeletal phenotype with overlapping features of Miller syndrome and functional characterisation of two new variants of human dihydroorotate dehydrogenase.

Journal: Heliyon
Published: June 06, 2024

Weyers Acrofacial Dysostosis: A Case Report.

Weyers Acrofacial Dysostosis: A Case Report.

Journal: Cureus
Published: January 07, 2024

Transcriptomic analysis reveals mitochondrial dysfunction in the pathogenesis of Nager syndrome in sf3b4-depleted zebrafish.

Transcriptomic analysis reveals mitochondrial dysfunction in the pathogenesis of Nager syndrome in sf3b4-depleted zebrafish.

Journal: Biochimica et biophysica acta. Molecular basis of disease
Published: December 13, 2023
Showing 1-12 of 266

Last Updated: 01/07/2026