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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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Detalles Bibliográficos
Autores principales: Kane, Jennifer, Berrebi, Kristen, McLean, Riley, Petkiewicz, Stephanie, Hay, Beverly, Martin, Madelena, Wiss, Karen
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2017
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5494382/
https://www.ncbi.nlm.nih.gov/pubmed/28680615
http://dx.doi.org/10.1002/ccr3.1011