Defect in phosphoinositide signalling through a homozygous variant in PLCB3 causes a new form of spondylometaphyseal dysplasia with corneal dystrophy

Lignende værker

• Gonadal Mosaicism in ARID1B Gene Causes Intellectual Disability and Dysmorphic Features in Three Siblings
  af: Ben-Salem, Salma, et al.
  Udgivet: (2015)
• A homozygous splicing mutation in ELAC2 suggests phenotypic variability including intellectual disability with minimal cardiac involvement
  af: Akawi, Nadia A., et al.
  Udgivet: (2016)
• A new Arab family with CEDNIK syndrome suggests a possible founder effect for the c.223delG mutation
  af: Ben-Salem, Salma, et al.
  Udgivet: (2015)
• LINS, a modulator of the WNT signaling pathway, is involved in human cognition
  af: Akawi, Nadia A, et al.
  Udgivet: (2013)
• Asparagine synthetase deficiency detected by whole exome sequencing causes congenital microcephaly, epileptic encephalopathy and psychomotor delay
  af: Ben-Salem, Salma, et al.
  Udgivet: (2014)