Multiple Synostoses Syndrome 1 Latest Advances

Congenital Upper Extremity Anomalies Misdiagnosed as Ulnar Longitudinal Deficiency.

Journal: Eplasty

Published: March 13, 2026

Proteome-Wide Analysis of Functional Phosphosites in the FGFR Family of Proteins: Insights from Large-Scale Phosphoproteomic Analysis.

Journal: Proteomes

Published: November 17, 2025

Grange-Like Phenotype Associated With an RNF213 Pathogenic Variant: Expanding the Vasculopathy Spectrum.

Journal: American journal of medical genetics. Part A

Published: October 31, 2025

Genetic Syndromes Associated With Congenital Upper Limb Differences.

Journal: The Journal of hand surgery

Published: September 27, 2025

Expert consensus on the clinical diagnosis and treatment of Congenital syndactyly (2025 Edition)

Journal: Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics

Published: September 14, 2025

Absence of Syndactyly Associated With the Common Apert FGFR2 S252W Mutation: A Clinical Report and Likely Molecular Explanation.

Journal: American journal of medical genetics. Part A

Published: June 01, 2025

Confirmation of the Hotspot Variant in MAP3K20 Responsible for Deafness, Ectodermal Dysplasia, Craniosynostosis, Ectrodactyly, and Skeletal Anomaly Spectrum.

Journal: Molecular syndromology

Published: March 05, 2025

A population description of CULAs using combined documentation of compound phenotypes according to the Oberg-Manske-Tonkin classification.

Journal: JPRAS open

Published: November 12, 2024

Polybrachysyndactyly in all 4 extremities: Case report.

Journal: International journal of surgery case reports

Published: May 31, 2024

Pfeiffer Syndrome (Acrocephalosyndactyly) With Significant Syndactyly and Brachydactyly: A Case Report.

Journal: Clinical medicine insights. Case reports

Published: May 24, 2024

The Intrarater and Interrater Reliability of the OMT Classification Among Physicians With a Different Background.

Journal: Journal of pediatric orthopedics

Published: April 26, 2024

Clinical Presentation and WES Analysis of a Large Iranian Pedigree in Five Successive Generation Affected to Sever Multiple Synostosis 2 (SYNS2, Farhud Type).

Journal: Iranian journal of public health

Published: February 10, 2024

Multiple Synostoses Syndrome 1 Latest Advances

Find the Latest Research About Multiple Synostoses Syndrome 1

Congenital Upper Extremity Anomalies Misdiagnosed as Ulnar Longitudinal Deficiency.

Congenital Upper Extremity Anomalies Misdiagnosed as Ulnar Longitudinal Deficiency.

Proteome-Wide Analysis of Functional Phosphosites in the FGFR Family of Proteins: Insights from Large-Scale Phosphoproteomic Analysis.

Proteome-Wide Analysis of Functional Phosphosites in the FGFR Family of Proteins: Insights from Large-Scale Phosphoproteomic Analysis.

Grange-Like Phenotype Associated With an RNF213 Pathogenic Variant: Expanding the Vasculopathy Spectrum.

Grange-Like Phenotype Associated With an RNF213 Pathogenic Variant: Expanding the Vasculopathy Spectrum.

Genetic Syndromes Associated With Congenital Upper Limb Differences.

Genetic Syndromes Associated With Congenital Upper Limb Differences.

Expert consensus on the clinical diagnosis and treatment of Congenital syndactyly (2025 Edition)

Expert consensus on the clinical diagnosis and treatment of Congenital syndactyly (2025 Edition)

Absence of Syndactyly Associated With the Common Apert FGFR2 S252W Mutation: A Clinical Report and Likely Molecular Explanation.

Absence of Syndactyly Associated With the Common Apert FGFR2 S252W Mutation: A Clinical Report and Likely Molecular Explanation.

Confirmation of the Hotspot Variant in MAP3K20 Responsible for Deafness, Ectodermal Dysplasia, Craniosynostosis, Ectrodactyly, and Skeletal Anomaly Spectrum.

Confirmation of the Hotspot Variant in MAP3K20 Responsible for Deafness, Ectodermal Dysplasia, Craniosynostosis, Ectrodactyly, and Skeletal Anomaly Spectrum.

A population description of CULAs using combined documentation of compound phenotypes according to the Oberg-Manske-Tonkin classification.

A population description of CULAs using combined documentation of compound phenotypes according to the Oberg-Manske-Tonkin classification.

Polybrachysyndactyly in all 4 extremities: Case report.

Polybrachysyndactyly in all 4 extremities: Case report.

Pfeiffer Syndrome (Acrocephalosyndactyly) With Significant Syndactyly and Brachydactyly: A Case Report.

Pfeiffer Syndrome (Acrocephalosyndactyly) With Significant Syndactyly and Brachydactyly: A Case Report.

The Intrarater and Interrater Reliability of the OMT Classification Among Physicians With a Different Background.

The Intrarater and Interrater Reliability of the OMT Classification Among Physicians With a Different Background.

Clinical Presentation and WES Analysis of a Large Iranian Pedigree in Five Successive Generation Affected to Sever Multiple Synostosis 2 (SYNS2, Farhud Type).

Clinical Presentation and WES Analysis of a Large Iranian Pedigree in Five Successive Generation Affected to Sever Multiple Synostosis 2 (SYNS2, Farhud Type).