5 papers found
Novel gene mutations in Chédiak–Higashi syndrome with hyperpigmentation
Case of Conradi–Hünermann–Happle syndrome due to a nonsense mutation of c.245G>A (p.W82*)
Linear keratinocytic epidermal nevi on trunk skin caused by a somatic FGFR2 p.C382R mutation
Novel KRT9 missense mutation in a Japanese case of epidermolytic palmoplantar keratoderma
Somatic HRAS p.G12S mosaic mutation causes unilaterally distributed epidermal nevi, woolly hair and palmoplantar keratosis
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