Acrofacial Dysostosis Catania Type Latest Advances

Find the Latest Research About Acrofacial Dysostosis Catania Type

Last Updated: 04/28/2026

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Found 268 publications

Nager Syndrome Revisited: Integrating In Vivo and In Vitro Models to Decipher SF3B4-Dependent Tissue Coordination.

Nager Syndrome Revisited: Integrating In Vivo and In Vitro Models to Decipher SF3B4-Dependent Tissue Coordination.

Journal: WIREs mechanisms of disease

Published: August 18, 2025

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

A novel EVC2 splice-site variant expands the mutational and phenotypic spectrum of Weyers acrofacial dysostosis.

A novel EVC2 splice-site variant expands the mutational and phenotypic spectrum of Weyers acrofacial dysostosis.

Journal: BMC medical genomics

Published: April 18, 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

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

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

Showing 1-12 of 268

Last Updated: 04/28/2026