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Last Updated: 01/07/2026

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Found 142 publications

In silico analysis identified potential interaction between glutathione and spliceosome in Nager Syndrome.

In silico analysis identified potential interaction between glutathione and spliceosome in Nager Syndrome.

Journal: Free radical biology & medicine
Published: May 29, 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

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

Complete Agenesis of Right Half of Soft Palate-A Case Report.

Complete Agenesis of Right Half of Soft Palate-A Case Report.

Journal: Indian journal of plastic surgery : official publication of the Association of Plastic Surgeons of India
Published: November 18, 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

Human stem cell model of neural crest cell differentiation reveals a requirement of SF3B4 in survival, maintenance, and differentiation.

Human stem cell model of neural crest cell differentiation reveals a requirement of SF3B4 in survival, maintenance, and differentiation.

Journal: Developmental dynamics : an official publication of the American Association of Anatomists
Published: May 01, 2024

Sf3b4 mutation in Xenopus tropicalis causes RNA splicing defects followed by massive gene dysregulation that disrupt cranial neural crest development.

Sf3b4 mutation in Xenopus tropicalis causes RNA splicing defects followed by massive gene dysregulation that disrupt cranial neural crest development.

Journal: bioRxiv : the preprint server for biology
Published: February 14, 2024

Human stem cell model of neural crest cell differentiation reveals a requirement of SF3B4 in survival, maintenance, and differentiation.

Human stem cell model of neural crest cell differentiation reveals a requirement of SF3B4 in survival, maintenance, and differentiation.

Journal: bioRxiv : the preprint server for biology
Published: February 08, 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 142

Last Updated: 01/07/2026