Phace Syndrome — Research Publications

MONDO:0011676

Research Landscape

Phace Syndrome has a growing body of research. We've classified 36 publications from PubMed so far, with a focus on case report research.

36publications classified from PubMed

Based on a 24-month sample. This number grows as we discover and classify more research.

36 of ~38 classified so far95%

Comprehensive sample

By Research Type

Case Report

Review

Epidemiology

Gene Therapy

Clinical Trial

Basic Science

Publications by Year

Distribution within our current sample

202424

202525

202626

Year-over-year: +29% (comparing 2024 vs 2025 within this sample)

Top Journals

Pediatric dermatology4

BMJ case reports2

Developmental medicine and child neurology2

Journal of medical imaging and radiation oncology1

Journal of AAPOS : the official publication of the American Association for Pediatric Ophthalmology and Strabismus1

Journal of the American Academy of Dermatology1

Top Research Groups

Metry DW2

Goergen SK1

Yu S1

López-Vera E1

Finstad A1

Metry D1

Publications

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Latest Research

Case ReportPMID: 41702291

George E et al. · European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society · 2026

Case ReportPMID: 41727672

Chandranaik D et al. · Clinical medicine insights. Pediatrics · 2026

Case ReportPMID: 41537011

Bissenas A et al. · JAAD case reports · 2026

Case ReportPMID: 41672752

Plumbley-Jones J et al. · Archives of disease in childhood. Fetal and neonatal edition · 2026