Targeted next-generation sequencing appoints c16orf57 as clericuzio-type poikiloderma with neutropenia gene.

  title={Targeted next-generation sequencing appoints c16orf57 as clericuzio-type poikiloderma with neutropenia gene.},
  author={Ludovica Volpi and Gaia Roversi and Elisa Adele Colombo and Nico Leijsten and Daniela Concolino and Andrea Calabria and Maria Antonietta Mencarelli and Michele Fimiani and Fabio Macciardi and Rolph Pfundt and Eric F. P. M. Schoenmakers and L Larizza},
  journal={American journal of human genetics},
  volume={86 1},
Next-generation sequencing is a straightforward tool for the identification of disease genes in extended genomic regions. Autozygosity mapping was performed on a five-generation inbred Italian family with three siblings affected with Clericuzio-type poikiloderma with neutropenia (PN [MIM %604173]), a rare autosomal-recessive genodermatosis characterised by poikiloderma, pachyonychia, and chronic neutropenia. The siblings were initially diagnosed as affected with Rothmund-Thomson syndrome (RTS… CONTINUE READING


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