Exocrine Pancreatic Insufficiency, Dyserythropoeitic Anemia, and Calvarial Hyperostosis Are Caused by a Mutation in the COX4I2 Gene

Lignende værker

• Mitochondrial complex IV deficiency, caused by mutated COX6B1, is associated with encephalomyopathy, hydrocephalus and cardiomyopathy
  af: Abdulhag, Ulla Najwa, et al.
  Udgivet: (2015)
• Novel Homozygous Missense Mutation in SPG20 Gene Results in Troyer Syndrome Associated with Mitochondrial Cytochrome c Oxidase Deficiency
  af: Spiegel, Ronen, et al.
  Udgivet: (2016)
• MARS variant associated with both recessive interstitial lung and liver disease and dominant Charcot-Marie-Tooth disease
  af: Rips, Jonathan, et al.
  Udgivet: (2018)
• Deleterious mutation in GPR88 is associated with chorea, speech delay, and learning disabilities
  af: Alkufri, Fadi, et al.
  Udgivet: (2016)
• Mitochondrial hepato-encephalopathy due to deficiency of QIL1/MIC13 (C19orf70), a MICOS complex subunit
  af: Zeharia, Avraham, et al.
  Udgivet: (2016)