ArticleJournal of dermatological case reports2013
Photoletter to the editor: Congenital atrichia associated with an uncommon mutation of HR gene.
Article in Journal of dermatological case reports, 2013. 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, 5 citations in OpenAlex.
- The importance of trichoscopy in clinical practice.Dermatology research and practice · 2013Article
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Authors and funding
7 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Congenital atrichia (CA) is a rare form of irreversible alopecia with an autosomal recessive mode of inheritance, usually associated with a mutation in the human hairless (HR) gene located at chromosome 8. Papular lesions may develop as an additional phenotypic feature. Herein we describe a case of CA supported by trichoscopy, histology and genetic analysis. The patient's single brother had also universal alopecia. To our knowledge this is the second report of a specific pathogenic mutation (c.2818C>T) of the HR, which until now had only been identified in a family with CA and papular lesions, emphasizing the difficulty to establish a strict correlation between HR genotyping and the phenotype.
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