Mutations in PNKP cause microcephaly, seizures and defects in DNA repair

Ítems similars

• Impact of PNKP mutations associated with microcephaly, seizures and developmental delay on enzyme activity and DNA strand break repair
  per: Reynolds, John J., et al.
  Publicat: (2012)
• ASPM mutations identified in patients with primary microcephaly and seizures
  per: Shen, J, et al.
  Publicat: (2005)
• An Autosomal Recessive Form of Spastic Cerebral Palsy (CP) with Microcephaly and Mental Retardation
  per: Rajab, Anna, et al.
  Publicat: (2006)
• A Truncating Mutation of TRAPPC9 Is Associated with Autosomal-Recessive Intellectual Disability and Postnatal Microcephaly
  per: Mochida, Ganeshwaran H., et al.
  Publicat: (2009)
• PDCD6IP, encoding a regulator of the ESCRT complex, is mutated in microcephaly
  per: Khan, Amjad, et al.
  Publicat: (2020)