Epidermolysis Bullosa Simplex in Children with De Novo Pathogenic Variants Disturbing KRT14
March 2024
in “
International journal of molecular sciences
”
Studysummary In this study, researchers identified three pathogenic de novo genetic variants contributing to epidermolysis bullosa simplex in young children, highlighting the complexity of genetic influences and underscoring the need for early genetic screening for accurate diagnosis and effective management.
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