research Homozygous Nonsense Mutation in DSC3 Resulting in Skin Fragility and Hypotrichosis
A boy's skin fragility and sparse hair were caused by a genetic mutation affecting skin cell adhesion.
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5 / 512 resultsresearch Corneodesmosin Gene Ablation Induces Lethal Skin-Barrier Disruption and Hair-Follicle Degeneration Related to Desmosome Dysfunction
Deleting the CDSN gene causes severe skin and hair problems, leading to death.
research A Spontaneous Deletion Within the Desmoglein 3 Extracellular Domain of Mice Results in Hypomorphic Protein Expression, Immunodeficiency, and a Wasting Disease Phenotype
A gene deletion in mice causes weak protein, immune issues, hair loss, airway problems, and wasting disease.
research Histopathological and Ultrastructural Study of Ectodermal Dysplasia/Skin Fragility Syndrome
The study concluded that PKP1 is essential for skin integrity and hair growth, and its dysfunction causes the symptoms of ectodermal dysplasia/skin fragility syndrome.
research Mice Lacking Desmocollin 1 Show Epidermal Fragility Accompanied by Barrier Defects and Abnormal Differentiation
Desmocollin 1 is essential for strong skin and proper skin function.
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