Autosomal dominant SCA5 and autosomal recessive infantile SCA are allelic conditions resulting from SPTBN2 mutations

Lignende værker

• Non-manifesting AHI1 truncations indicate localized loss-of-function tolerance in a severe Mendelian disease gene
  af: Elsayed, Solaf M., et al.
  Udgivet: (2015)
• Recurrent and Prolonged Infections in a Child with a Homozygous IFIH1 Nonsense Mutation
  af: Zaki, Maha, et al.
  Udgivet: (2017)
• Reply to “Between SCA5 and SCAR14: delineation of the SPTBN2 p.R480W-associated phenotype” by Nuovo et al.
  af: Bolz, Hanno J.
  Udgivet: (2018)
• A novel VPS13B mutation in two brothers with Cohen syndrome, cutis verticis gyrata and sensorineural deafness
  af: Mégarbané, André, et al.
  Udgivet: (2009)
• OSBPL2 encodes a protein of inner and outer hair cell stereocilia and is mutated in autosomal dominant hearing loss (DFNA67)
  af: Thoenes, Michaela, et al.
  Udgivet: (2015)