A missense mutation in the type II hair keratin hHb3 is associated with monilethrix

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• Expression of a truncated form of hHb1 hair keratin in human breast carcinomas.
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• A Novel Missense Mutation in the Second Extracellular Domain of GJB2, p.Ser183Phe, Causes a Syndrome of Focal Palmoplantar Keratoderma with Deafness
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• A Homozygous Missense Mutation in TGM5 Abolishes Epidermal Transglutaminase 5 Activity and Causes Acral Peeling Skin Syndrome
  Bằng: Cassidy, Andrew J., et al.
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