Biallelic mutations in kdsr disrupt ceramide synthesis and result in a spectrum of keratinization disorders associated with thrombocytopenia

HIGHLIGHTS

• who: Takuya Takeichi from the Dentistry, Queen Mary University of London, Whitechapel, London, UK have published the article: Biallelic Mutations in KDSR Disrupt Ceramide Synthesis and Result in a Spectrum of Keratinization Disorders Associated with Thrombocytopenia, in the Journal: (JOURNAL)
• what: The authors investigated four individuals from Spain, Japan, and the United Kingdom who presented with inherited disorders of keratinization but had clinical features different from those presented by Boyden et_al . The authors identified biallelic mutations in KDSR in patients with defective keratinization and thrombocytopenia, implicating KDSR in the pathobiology of hereditary palmoplantar keratodermas and . . .
  

   

  

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