Brachydactyly Latest Advances

Find the Latest Research About Brachydactyly

Last Updated: 04/28/2026

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Found 739 publications

Congenital Upper Extremity Anomalies Misdiagnosed as Ulnar Longitudinal Deficiency.

Congenital Upper Extremity Anomalies Misdiagnosed as Ulnar Longitudinal Deficiency.

Journal: Eplasty
Published: March 13, 2026

Correction to: A novel brachydactyly type E syndrome caused by variants in helix 8 of the PTH1R.

Correction to: A novel brachydactyly type E syndrome caused by variants in helix 8 of the PTH1R.

Journal: Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research
Published: March 06, 2026

Chitayat Syndrome: A Rare Case of Respiratory Distress in a Preterm Infant.

Chitayat Syndrome: A Rare Case of Respiratory Distress in a Preterm Infant.

Journal: Pediatric and developmental pathology : the official journal of the Society for Pediatric Pathology and the Paediatric Pathology Society
Published: January 22, 2026

A Case of Encephalocraniocutaneous Lipomatosis (ECCL) With Atypical Clinical Presentation Diagnosed on Molecular Testing: FGFR1 ECCL Tumor Risk.

A Case of Encephalocraniocutaneous Lipomatosis (ECCL) With Atypical Clinical Presentation Diagnosed on Molecular Testing: FGFR1 ECCL Tumor Risk.

Journal: American journal of medical genetics. Part A
Published: January 07, 2026

Brachymetatarsia as an Early Clue to Turner Syndrome.

Brachymetatarsia as an Early Clue to Turner Syndrome.

Journal: Clinical case reports
Published: January 05, 2026

ROP mimicker in a big premature baby: Adams-Oliver syndrome with DOCK6 mutation: a case report and review of the literature.

ROP mimicker in a big premature baby: Adams-Oliver syndrome with DOCK6 mutation: a case report and review of the literature.

Journal: Ophthalmic genetics
Published: December 29, 2025

Tuning RUNX2 in Craniofacial Development and Metaphyseal Dysplasia with Maxillary Hypoplasia and Brachydactyly (MDMHB).

Tuning RUNX2 in Craniofacial Development and Metaphyseal Dysplasia with Maxillary Hypoplasia and Brachydactyly (MDMHB).

Journal: Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research
Published: December 16, 2025

Prenatal Diagnosis of Peters-Plus Syndrome: A Case Report.

Prenatal Diagnosis of Peters-Plus Syndrome: A Case Report.

Journal: Life (Basel, Switzerland)
Published: December 08, 2025

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.

Journal: Proteomes
Published: November 17, 2025

Epidemiology of brachydactyly type A3 in China: a nationwide multicentre population-based study among children aged 3-17 years.

Epidemiology of brachydactyly type A3 in China: a nationwide multicentre population-based study among children aged 3-17 years.

Journal: BMJ open
Published: November 14, 2025

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.

Journal: American journal of medical genetics. Part A
Published: October 31, 2025

Genetic Syndromes Associated With Congenital Upper Limb Differences.

Genetic Syndromes Associated With Congenital Upper Limb Differences.

Journal: The Journal of hand surgery
Published: September 27, 2025
Showing 1-12 of 739

Last Updated: 04/28/2026