Mutational profiling of a MonoMAC syndrome family with GATA2 deficiency

Eitemau Tebyg

• Secondary pulmonary alveolar proteinosis in GATA-2 deficiency (MonoMAC syndrome)
  gan: Raziq, Fazal I, et al.
  Cyhoeddwyd: (2020)
• Mutations in GATA2 are associated with the autosomal dominant and sporadic monocytopenia and mycobacterial infection (MonoMAC) syndrome
  gan: Hsu, Amy P., et al.
  Cyhoeddwyd: (2011)
• GATA2 haploinsufficiency caused by mutations in a conserved intronic element leads to MonoMAC syndrome
  gan: Hsu, Amy P., et al.
  Cyhoeddwyd: (2013)
• MonoMAC Syndrome in a Patient With a GATA2 Mutation: Case Report and Review of the Literature
  gan: Camargo, Jose F., et al.
  Cyhoeddwyd: (2013)
• GATA2 mutation in long stand Mycobacterium kansasii infection, myelodysplasia and MonoMAC syndrome: a case-report
  gan: Mendes-de-Almeida, Daniela Palheiro, et al.
  Cyhoeddwyd: (2019)