A case of pachyonychia congenita with a hotspot variant at Arg127 in KRT16: Disease severity assessment using AlphaMissense technology.

Noda, Tatsuhiro; Takeichi, Takuya; Tanahashi, Kana; Muro, Yoshinao; Akiyama, Masashi

Noda, Tatsuhiro; Takeichi, Takuya; Tanahashi, Kana; Muro, Yoshinao; Akiyama, Masashi.

Affiliation

Noda T; Department of Dermatology, Nagoya University Graduate School of Medicine, Nagoya, Aichi, Japan.
Takeichi T; Department of Dermatology, Nagoya University Graduate School of Medicine, Nagoya, Aichi, Japan.
Tanahashi K; Nagoya University Institute for Advanced Research, Nagoya, Japan.
Muro Y; Department of Dermatology, Nagoya University Graduate School of Medicine, Nagoya, Aichi, Japan.
Akiyama M; Department of Dermatology, Nagoya University Graduate School of Medicine, Nagoya, Aichi, Japan.

J Dermatol ; 51(8): 1134-1136, 2024 Aug.

Article de En | MEDLINE | ID: mdl-38963306

Sujet(s)
Mots clés

genotypephenotype correlation; missense; nail; palmoplantar keratoderma; substitution

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Texte intégral: 1 Collection: 01-internacional Base de données: MEDLINE Sujet principal: Indice de gravité de la maladie / Pachyonychie congénitale Limites: Female / Humans / Male Langue: En Journal: J Dermatol Année: 2024 Type de document: Article Pays d'affiliation: Japon Pays de publication: Royaume-Uni

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