Novel and recurrent mutations in keratin 1 cause epidermolytic ichthyosis and palmoplantar keratoderma von Smith, F. J. D., Kreuser‐Genis, I. M., Jury, C. S., Wilson, N. J., Terron‐Kwiatowski, A., Zamiri, M.

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Avascular necrosis of the hip and diffuse idiopathic skeletal hyperostosis during long-term isotretinoin treatment of epidermolytic ichthyosis due to a novel deletion mutation in K... von Lamb, R.C., Lang, J., Terron-Kwiatowski, A., Baty, D., McLean, W.H.I., Zamiri, M.

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171 A heterozygous mutation in GJB2 (Connexin 26; F142L) associated with deafness and recurrent skin rash has connexin trafficking deficiencies von Alboulshi, A., Lovgren, M., Terron-Kwiatowski, A., Baty, D., Zamiri, M., Waters, A., Martin, P.E.

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