Uniparental disomy as a mechanism for CERS3‐mutated autosomal recessive congenital ichthyosis

Samankaltaisia teoksia

• Mutations in CERS3 Cause Autosomal Recessive Congenital Ichthyosis in Humans
  Tekijä: Radner, Franz P. W., et al.
  Julkaistu: (2013)
• Correction: Mutations in CERS3 Cause Autosomal Recessive Congenital Ichthyosis in Humans
  Tekijä: Radner, Franz P. W., et al.
  Julkaistu: (2013)
• Autosomal recessive congenital ichthyosis: CERS3 mutations identified by a next generation sequencing panel targeting ichthyosis genes
  Tekijä: Youssefian, Leila, et al.
  Julkaistu: (2017)
• Mutations in TGM1 in Ecuadorians with autosomal recessive congenital ichthyosis
  Tekijä: Zambrano, Hector, et al.
  Julkaistu: (2013)
• AB064. Autosomal recessive diseases caused by a rare mechanism: uniparental disomy
  Tekijä: Chen, Ya-Chi, et al.
  Julkaistu: (2015)