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    • PCSK5 mutation in a patient with the VACTERL association 

      Nakamura, Yukio; Kikugawa, Shingo; Seki, Shoji; Takahata, Masahiko; Iwasaki, Norimasa; Terai, Hidetomi; Matsubara, Mitsuhiro; Fujioka, Fumio; Inagaki, Hidehito; Kobayashi, Tatsuya; Kimura, Tomoatsu; Kurahashi, Hiroki; Kato, Hiroyuki (BioMed Central, 2015)
      Background: The VACTERL association is a typically sporadic, non-random collection of congenital anomalies that includes vertebral defects, anal atresia, cardiac defects, tracheoesophageal fistula with esophageal atresia, ...