New and recurrent AAGAB mutations in punctate palmoplantar keratoderma

Ítems similars

• Haploinsufficiency for AAGAB causes clinically heterogeneous forms of punctate palmoplantar keratoderma
  per: Pohler, Elizabeth, et al.
  Publicat: (2012)
• Heterozygous Mutations in AAGAB Cause Type 1 Punctate Palmoplantar Keratoderma with Evidence for Increased Growth Factor Signaling
  per: Pöhler, Elizabeth, et al.
  Publicat: (2013)
• Identification of Distinct Mutations in AAGAB in Families with Type 1 Punctate Palmoplantar Keratoderma
  per: Furniss, Megan, et al.
  Publicat: (2014)
• Nonsense Mutations in AAGAB Cause Punctate Palmoplantar Keratoderma Type Buschke-Fischer-Brauer
  per: Giehl, Kathrin A., et al.
  Publicat: (2012)
• Novel and Recurrent Mutations in Keratin 1 cause Epidermolytic Ichthyosis (EI) and Palmoplantar Keratoderma
  per: Smith, FJD, et al.
  Publicat: (2019)