Brachydactyly Latest Advances

Find the Latest Research About Brachydactyly

Last Updated: 06/30/2026

Save publications for later
Sign Up
Not sure about your diagnosis?
Check Your Symptoms
Found 742 publications

Short stature, hearing loss, retinitis pigmentosa, and distinctive facies: an ophthalmological description of a new case of SHRF syndrome.

Short stature, hearing loss, retinitis pigmentosa, and distinctive facies: an ophthalmological description of a new case of SHRF syndrome.

Journal: Ophthalmic genetics
Published: May 25, 2026

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

Expanding the clinical phenotype of HIST1H1E syndrome: cerebellar atrophy and bilateral optic neuropathy, a case report.

Expanding the clinical phenotype of HIST1H1E syndrome: cerebellar atrophy and bilateral optic neuropathy, a case report.

Journal: Frontiers in neurology
Published: March 01, 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

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

Polydactyly and syndactyly in a Chinese family with Floating-Harbor syndrome: an expansion of the clinical phenotype.

Polydactyly and syndactyly in a Chinese family with Floating-Harbor syndrome: an expansion of the clinical phenotype.

Journal: Frontiers in genetics
Published: December 06, 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
Showing 1-12 of 742

Last Updated: 06/30/2026