Syndromic X-linked intellectual disability segregating with a missense variant in RLIM

Lignende værker

• A missense mutation in the CRBN gene that segregates with intellectual disability and self-mutilating behaviour in a consanguineous Saudi family
  af: Sheereen, Atia, et al.
  Udgivet: (2017)
• An 8.9 Mb 19p13 duplication associated with precocious puberty and a sporadic 3.9 Mb 2q23.3q24.1 deletion containing NR4A2 in mentally retarded members of a family with an intrachromosomal 19p-into-19q between-arm insertion
  af: Lybæk, Helle, et al.
  Udgivet: (2009)
• Gene expression profiles in rat brain disclose CNS signature genes and regional patterns of functional specialisation
  af: Stansberg, Christine, et al.
  Udgivet: (2007)
• Novel ATRX gene damaging missense mutation c.6740A>C segregates with profound to severe intellectual deficiency without alpha thalassaemia
  af: Bouazzi, Habib, et al.
  Udgivet: (2016)
• Missense variants in AIMP1 gene are implicated in autosomal recessive intellectual disability without neurodegeneration
  af: Iqbal, Zafar, et al.
  Udgivet: (2016)