ArticleCase reports in dermatology
Novel Compound Heterozygous Variants of
Article in Case reports in dermatology. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 1 paper.
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
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Who cites it
1 citing paper in PubMed.
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3 authors.
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Abstract
Introduction: Desmoplakin is constitutive component of desmosome which plays a critical part in keratinocyte adhesion. Skin fragility-woolly hair syndrome (SFWHS) is a very rare autosomal recessive disorder caused by variants in desmoplakin ( Case Presentation: Herein, we described a 2-year-old Chinese boy who presented with palmoplantar keratoderma, short curly hair, and thickening of nails since birth. Histopathological examination showed hyperkeratosis, acanthosis, hypergranulosis, and prominent intercellular fissures. Two heterozygous variants in exon 24 of Conclusion: To the best of our knowledge, this is the second case of SFWHS with compound heterozygous variants in a Chinese population. This case adds new variant spectrum in
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