학술논문
Coexistence of junctional epidermolysis bullosa, autosomal recessive deafness type 57, and Angelman syndrome: A case report.
Document Type
Case Study
Author
Source
Subject
*ANGELMAN syndrome
*DEAFNESS
*EPIDERMOLYSIS bullosa
*SYMPTOMS
*DEVELOPMENTAL delay
*GENE therapy
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*
*
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*
Language
ISSN
2050-0904
Abstract
This case report highlights the value of reanalyzing genetic data in patients with rare diseases and developmental delay. It also emphasizes the importance of considering potential superimposed diagnoses in individuals with multiple genetic variants. Early diagnosis and intervention can improve outcomes and prevent further complications in affected patients. [ABSTRACT FROM AUTHOR]