A new Arab family with CEDNIK syndrome suggests a possible founder effect for the c.223delG mutation

Παρόμοια τεκμήρια

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  ανά: Ben-Salem, Salma, κ.ά.
  Έκδοση: (2014)
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  ανά: Ben-Salem, Salma, κ.ά.
  Έκδοση: (2015)
• Gonadal Mosaicism in ARID1B Gene Causes Intellectual Disability and Dysmorphic Features in Three Siblings
  ανά: Ben-Salem, Salma, κ.ά.
  Έκδοση: (2015)
• Asparagine synthetase deficiency detected by whole exome sequencing causes congenital microcephaly, epileptic encephalopathy and psychomotor delay
  ανά: Ben-Salem, Salma, κ.ά.
  Έκδοση: (2014)
• Defect in phosphoinositide signalling through a homozygous variant in PLCB3 causes a new form of spondylometaphyseal dysplasia with corneal dystrophy
  ανά: Ben-Salem, Salma, κ.ά.
  Έκδοση: (2017)