A novel mutation in LMX1B gene in a newborn with nail‐patella syndrome: Clinical and dermoscopic findings
Author:
Affiliation:
1. Dermatology Unit Department of Medical Surgical and Neurosciences Siena University Hospital Italy
2. Medical Genetics University of Siena Siena Italy
3. Genetica Medica Azienda Ospedaliera Universitaria Senese Siena Italy
Publisher
Wiley
Subject
Dermatology,Pediatrics, Perinatology and Child Health
Link
https://onlinelibrary.wiley.com/doi/pdf/10.1111/pde.14337
Reference5 articles.
1. Dermoscopy of Biett's sign and differential diagnosis with annular maculo-papular rashes with scaling
2. Nail patella syndrome: a review of the phenotype aided by developmental biology
3. The human LMX1B gene: transcription unit, promoter, and pathogenic mutations
4. Triangular Lunulae
5. A Double Case of Nail-Patella Syndrome in the Same Family: The Importance of Nail Changes as Diagnostic Clues for Renal Involvement
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1. “Knee-Ding” a Diagnosis: A Case of Nail Patella Syndrome;Cureus;2023-11-14
2. Total Knee Arthroplasty for Osteoarthritis in a Patient with Nail Patella Syndrome – A Case Report;International Medical Case Reports Journal;2021-12
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