Severe lethal phenotype of a Japanese case of Netherton syndrome with homozygous founder mutations of <i><scp>SPINK</scp>5</i> c.375_376del<scp>AT</scp>

  • Katsuhiko Itoh
    Department of Pediatrics Mie Prefectural General Medical Center Mie Japan
  • Tomoko Kako
    Department of Dermatology Mie Prefectural General Medical Center Mie Japan
  • Naofumi Suzuki
    Department of Pediatrics Mie Prefectural General Medical Center Mie Japan
  • Naoto Sakurai
    Department of Pediatrics Mie Prefectural General Medical Center Mie Japan
  • Kenji Sugiyama
    Department of Pediatrics Mie Prefectural General Medical Center Mie Japan
  • Kiyofumi Yamanishi
    Department of Dermatology Hyogo College of Medicine Hyogo Japan

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