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Noonan syndrome with loose anagen hair associated with trichorrhexis nodosa and trichoptilosis

We report a case of Noonan syndrome with loose anagen hair (NS/LAH), a rare variant of Noonan syndrome, with associated trichorrhexis nodosa and trichoptilosis. The SHOC2 mutation may be responsible for these additional hair shaft defects, revealing the importance of microscopic examination of hairs...

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Detalhes bibliográficos
Publicado no:Clin Case Rep
Main Authors: Kane, Jennifer, Berrebi, Kristen, McLean, Riley, Petkiewicz, Stephanie, Hay, Beverly, Martin, Madelena, Wiss, Karen
Formato: Artigo
Idioma:Inglês
Publicado em: John Wiley and Sons Inc. 2017
Assuntos:
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC5494382/
https://ncbi.nlm.nih.gov/pubmed/28680615
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/ccr3.1011
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