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

Key Clinical Message 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...

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Auteurs principaux: Jennifer Kane, Kristen Berrebi, Riley McLean, Stephanie Petkiewicz, Beverly Hay, Madelena Martin, Karen Wiss
Format: Artigo
Langue:Inglês
Publié: Wiley 2017-07-01
Collection:Clinical Case Reports
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Accès en ligne:https://doi.org/10.1002/ccr3.1011
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